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Genetic Report
Confidential Report Number
XXXXXXX
Wellness & Longevity App

Whole Genome Sequencing
Analysis Conducted May 2017
Confidential Information
Wellness & Longevity App Dante Labs
Genetic Report 20430544
Dear 20430544,
Your genes have been successfully analyzed using the Wellness & Longevity App from Sequencing.com.
This document is your genetic report, which is a straightforward and non-technical presentation of the
results. It provides clear solutions to optimize your health and longevity.
The insights obtained from learning about your genes may enable you, in partnership with your healthcare
provider, formulate a plan to outsmart your genes and live a longer, more vibrant life.
Sincerely,
The Sequencing.com team
Disclaimer
Sequencing.com’s Wellness & Longevity App v2 (“App”) is for informational purposes only.
The Wellness & Longevity App v2 (“App”) analyzes a large amount of genetic data and produces a single genetic report.
The genetic report includes information about condition risk and ways that a person may impact condition risk, such as
lifestyle modifications that have been found by published research to lower the risk of a condition. Please note that
while this App does not require FDA approval, we do want to point out that it has not been approved by the FDA for
such use.
The genetic analysis and reporting conducted by the App are based on information from one or more published third-
party scientific and medical studies. We do not independently judge the validity or accuracy of such published scientific
information. Because scientific and medical information changes over time, your risk assessment and genetically tailored
prevention for one or more of the conditions contained within this report may also change over time. For example,
opinions differ on the importance and relative weights given to genetic factors. Also, epidemiologic data aren’t available
for some conditions, and this App may not be able to provide definitive information about your overall risk of a
particular condition, the severity of a particular condition, what actions you can take to prevent it, its clinical
significance, your carrier status, and/or the likelihood you or a family member may be affected by it. At best, we can
only provide data for you and your healthcare provider to use when making judgments about relative, absolute, and/or
lifetime risks.
Therefore, this report may not be 100% accurate (e.g., new research could mean different results) and may not predict
actual results or outcomes. A person’s risk of any particular phenotype, condition or trait is also based on other factors
not yet analyzed by this App (e.g., diet, lifestyle, genetic variants not available because information about them is not
included in the genetic data file provided by the App user, etc.).
This App may be updated from time to time so that the analysis and reporting incorporates new or changed research or
scientific results. Because of this, the reports produced by this App may change and the App user may want to re -run the
App after the App has been updated in-order to make sure he or she has the most up-to-date report.
Nothing in the genetic report should be used for medical diagnosis or treatment. The information provide d should not
be considered complete, nor should it be relied on to suggest diagnosis or treatment of a particular in dividual. Material
in the genetic report should not be relied upon for personal, medical, legal, technical, or financial decisions.
This genetic report should not be used in place of a visit with or advice from your doctor or other qualified healthcare
professional. You should always get the advice of your doctor or other appropriate health care professional if you have
any question about diagnosis, treatment, prevention, mitigation, or cure of any medical condition, phenotype,
condition, impairment, or the status of your health. Do not stop any medications you have been prescribed, start any
new medications, or modify any medical treatments ordered by your healthcare provider without first talking with your
provider. If you have any healthcare related questions, please promptly consult your physician or other qualified
healthcare provider. If you haven’t exercised for a while (such as for months or years), always consult with your
physician before starting to exercise.
Sequencing.com is not a laboratory and we do not perform genetic testing. If you upload genetic data to
Sequencing.com then you affirm that you have the legal right to be in possession of that genetic data.
Patent, Trademark, and Copyright Information
The genetic analysis and reporting technologies utilized to create this report are patent-pending.
Trademarks that may appear throughout this report are used with permission from the owner – these include but are
not limited to: PersonalizationTM, Nexus®, Reflex®, One Genome®, Outsmart Your Genes® and Predict Prevent Prevail®.
The copyright for each page of this genetic report and for the report in its entirety are used with permission from the
owner.
Copyright ©2015 Sequencing.com
All Rights Reserved.
How to Read Your Genetic Report
Each page of the report explains your results for a particular condition or trait and provides you with genetically-tailored
information that may help decrease the risk of that condition or control the trait. (A trait is something that is affected by
your genes but does not make you sick. An example is athletic performance.) Here’s what you can expect to find on each
page of your report:
Confidential Report Number. At the top of every page you’ll notice a Confidential Report Number. This number is
unique to you and is kept confidential. To help insure your privacy, neither your name nor any other identifying
information is printed on this genetic report.
Condition or trait name and background. At the top of each page, you will see the name of the condition or trait that is
being discussed. Right under this we provide some background information and statistics on the condition or trait.
Your genetic assessment. Your test results will be summarized in this section:
The overall risk. A box at the top of this section will provide your overall Your Lifetime Risk
lifetime risk of coming down with the condition or having the trait. For MODERATE
some types of conditions or traits your risk is shown as a risk category (for
example, “MODERATE”). For other types of conditions or traits you will
see a statement, such as “You are a carrier” or “You are likely affected.” If
you see a statement like that, we will provide additional information
farther down on the same page to explain what it means.
Even if you are at risk for a condition, that doesn’t mean you actually have
the condition or will ever get it. If we say that you’re at risk for, or INCREASED RISK
predisposed to a condition or trait, we mean that, based on our
knowledge of current published scientific research, you have a higher risk
of getting the condition or developing the trait than other people in the
general population
If you are found to be a “carrier” of a condition, it means that the

You are a
condition will not affect you but you may pass the change in the gene that CARRIER
causes the condition to your children (and if you have children, it may
have already been passed on). If you are a carrier of a condition, it is
important for you to have the person you are going to have a child with
also tested. If that person is not a carrier of the same condition, your
children are very unlikely to be affected by the condition, but if he or she
is a carrier, 25% of the children you have with this individual may be
affected by the condition.
If you are found to be “most likely affected” by a condition, it means that

You are
you have one or more changes in your genes that have been shown to MOST LIKELY AFFECTED
cause a condition. Even people who are affected by a condition may
experience it more or less severely and the time of onset may also differ.
These differences can be difficult to predict. If information about severity
and onset is available, we try to provide this information as well.
The Risk or Severity gauge. For some conditions or traits you’ll see a
gauge called “Risk.” This gauge compares your risk (the darker hand) to
the risk of the general population (the lighter hand). For other conditions
or traits you’ll see a gauge called “Severity” that tells you how severe the Risk Severity
condition is likely to be if it should ever manifest.
The Clinical Significance gauge. This gauge tells you how much of an
impact the condition or trait could have on your health. A high reading on
this gauge suggests that the condition or trait is very important to your
health and well-being. Clinical Significance
The Actionability gauge. Many conditions can be prevented, or the onset

and progression delayed, if the right steps are taken. When this gauge
reads “high,” it means that there are concrete steps you and your
provider can take to prevent the condition before it occurs. There may
Actionability
also be helpful treatments available should you come down with the
condition.
Onset and Symptoms. This section provides you with information about the most likely age of onset of the condition or
trait, as well as its symptoms.
Genetically Tailored Prevention. The advanced genetic analysis provided by Sequencing.com’s Wellness & Longevity
App not only analyzed your risk of a condition but also conducted a first-of-its-kind analysis of your genes to determine
what personalized preventive measures are likely to be most effective for you based on your genetic makeup. This is
referred to as Reflex® Analysis. The types of preventive measures available to you and your provider will fall into a few
different categories, such as:
Monitoring and Screening. There may be certain tests you or your provider can perform to monitor for the
earliest signs of a condition so that it can be treated quickly, thus minimizing its impact on you.
Medications. Certain medications can often be effective in preventing a condition. We’ll tell you about the
medications that might be used to prevent or treat the conditions for which you’re at risk, whether your genes
suggest they’ll work well for you, and whether your genes put your at increased risk of certain side effects from
those medications.
Lifestyle Modifications. Changes in our day-to-day lives, such as eating different foods or performing specific
types of exercises, can have a huge impact on our health. This section will provide you with genetically ta ilored
lifestyle information so you will know exactly what foods and exercises are likely to be effective in helping you
prevent a condition.
Disease Interventions. Despite preventive efforts, a condition, such as a disease, sometimes occurs. Fortunately,
there are effective treatments for many conditions, and the results of your genetic analysis may suggest how
well specific treatments will work for you. Having this information will allow you and your healthcare provider to
focus on the treatments that are most likely to work and avoid those that may be ineffective or have an
increased rsk of causing harmful side effects.
Complementary Interventions. Certain preventive measures not yet embraced by Western medicine have been
found to be effective in protecting against some conditions. This section will tell you which of those, if any, may
be beneficial to you.
Common Misconceptions. Common misconceptions can lead us to spend a lot of time and money on
preventions or treatments that just don’t work. This section, which is included whenever applicable, provides
you with insight into some of the common misconceptions surrounding the prevention or treatment of the
condition being discussed so that you are well informed.
Family Planning. This section contains information about different family planning options that may reduce your
future children’s risk of being affected by a condition.
The preventive information in this report have been shown in scientific studies to hel p lower the risk, or delay the onset,
of a condition. Occasionally the information provided may be supported by just one or two studies. We consider this
information preliminary and we will either state that they are ‘preliminary’ or mark the information with the“§” symbol.
Further research is usually needed to corroborate these preliminary results.
It’s important to understand that your risk assessment and the lifetime risk for each condition is only based upon an
analysis of your genes and does not take into account non-genetic risk factors that may be increasing or decreasing your
total risk of a condition. For example, the melanoma assessment only takes into account genes that are known to be
associated with melanoma risk but does not take into account the number of sunburns you’ve had throughout your life
or whether you have used tanning beds (which are non-genetic factors that also influence your risk of melanoma).
Lately, your risk assessment only includes information that’s based upon published research studies. In the future,
information about the genes currently being assessment may change and/or researchers may find additional genes
associated with risk of the condition. Because of this, based on continued genetic research your risk assessment for a
condition may change. The risk assessment presented in this report is accurate as of published research that is known at
the time the report is generated and the genes that have been tested for and analyzed.
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Genetic Report 20430544 Dante Labs
Athletic Performance
Your genes can affect many aspects of your health, including your potential to excel at specific
workouts and sports. The genetic testing results below allow you to personalize your physical
fitness routine in-order to help you reach your fitness and wellness goals.
Genetic testing for athletic performance focuses on a gene that determines your muscle fiber
type. A number of different genes that are associated with exercise-induced fatigue and exercise-
induced muscle damage have also been analyzed.
Your genes indicate you are likely to excel at

Endurance-based
Sports and Training
Power Endurance
Athletic Predisposition
You are likely to excel at endurance-based sports and physical activities. This doesn’t mean you can’t play or excel at
power-based sports, only that when participating in power-based sports you are more likely to experience fatigue and
muscle pain earlier and more intensely than people predisposed to power.
Significant Exercise-Induced Fatigue Exercise-Induced Muscle Damage

A number of genes were assessed and you are You do not have sickle cell trait and are not at risk
not genetically predisposed to becoming of exercise-induced muscle damage due to this
abnormally fatigued while exercising. specific trait.
Genetically Tailored Training

Your Athletic Predisposition Exercise-induced Fatigue
 Based on your genes, you are more likely to excel at  You are not predisposed to an abnormal amount of
sports that require endurance. These activities usually exercise-induced fatigue.
involve low to medium physical exertion and last
longer than 20 minutes without rest. They include:  While everyone has the potential to become tired
 Using cardio equipment, such as the elliptical, after prolonged exercise, you most likely will not
treadmill, Stairmaster, or rowing machine for experience an abnormal amount of fatigue.
longer than 20 minutes without a rest
 Long distance and marathon running
 Long-distance swimming Exercise-induced Muscle Damage
 Rowing, kayaking, and canoeing
 Hiking, mountaineering, and cross-country  You do not have sickle cell trait.
skiing
 Triathlons such as Ironman competitions  Sickle cell trait is a condition in-which the shape of
red blood cells can change from circular into a
 Your genes indicate that you are less likely to excel in sickle-like shape, usually if the person is exposed to
sports requiring physical power and strength. These decreased oxygen levels and/or dehydration, both
activities include: of which may occur during exercise. When blood
 Five to ten minutes intervals of intense cells sickle, they can cause damage to various
exercise on cardio equipment muscles throughout the body, including the heart,
 Resistance and weight training potentially leading to death. Many people, however,
 Short distance running and sprints do not know they have this condition until after it
 Short distance swimming negatively affects their health. Because of this, we
 Gymnastics, wrestling, and boxing screened your genes for sickle cell trait and you do
not have this condition.
 Ice hockey, soccer, volleyball, tennis, archery,
and downhill skiing
Melanoma
Melanoma is a very serious cancer of pigment-producing cells called melanocytes. While melanoma most often
occurs in the skin, it can also develop in other areas of the body, such as the eyes. The rate of melanoma is
increasing faster than almost all other cancers in North America but it can be cured if detected early.
The key to protecting yourself against melanoma is prevention throughout life and vigilance by both you and your
doctor that will allow for early detection should the disease ever occur.
Your genes indicate you have a
LOW RISK
a
of Melanoma
Clinical Significance Your Risk of Melanoma Actionability

This potential disease Your Genetic Lifetime Risk: Preventive measures have been
can have a very significant impact Low (<2%) shown to help prevent or delay
upon your health & wellness. Normal Lifetime Risk: 2% onset or progression of this disease.
Onset & Symptoms
Due to your genes, you have a lower genetic risk of developing melanoma compared to most people. While
melanoma may occur at any age, if it does manifest then it is more likely to develop during adulthood.
Please note: This genetic report does not take into account non-genetic factors that may increase your risk of
melanoma, such as if you’ve ever had sunburns (especially during your childhood) and if you’ve ever used tanning
beds. Because of this, your overall lifetime risk of melanoma may be higher than your genetic risk.
Genetically
GeneticallyTailored Prevention
Tailored Prevention
Monitoring and Screening
 A lower than normal risk does not mean you have no risk of getting melanoma. Therefore, it is important you
still protect yourself from the sun and see a dermatologist as directed.
 Even though you have a lower than normal genetic risk of melanoma, your doctor may still want to conduct
routine full body skin exams, such as once a year (or more frequently to monitor any suspicious moles).
 If caught early, melanoma can usually be cured. If it isn’t caught until a later stage, it is often fatal.
 Melanoma usually develops from a mole but may also first appear as a colorless lump under the skin. The most
common sites for melanoma are the legs in women and the upper back in both men and women, although
melanoma can occur anywhere on the body, including under the nails, on the scalp, and on the bottom of feet.
 The mnemonic ‘ABCD & E’ is helpful to remember how to identify abnormal moles to show your doctor:
Asymmetry (one or more parts of the mole appears different)
Border (the edges of the mole are irregular, such as appearing notched, uneven, or blurred)
Color (the color of the mole is uneven)
Diameter (mole is wider than ¼ inch or 6mm)
Evolving (mole changes in appearance or size over time, or may start to itch, ulcerate, or bleed)
Existence Genetics LLC
Lifestyle Modifications
 Sunburns, especially at a younger age, have been linked to increased risk of melanoma. Avoid sunburns
throughout life and, when you are outside, seek shade and use the following to limit harmful sun exposure:
o Use broad spectrum sunscreen and lip balm with SPF of 30 or greater that blocks both UVA and UVB light.
Reapply as directed, such as after two hours or more frequently if sweating or swimming.
o Wear sunglasses that have at least 99% UV absorption and block both UVA and UVB light.
 Tanning beds greatly increased the risk of developing melanoma. Therefore, avoid using tanning beds and
sunlamps throughout your entire life, especially before the age of 30. It is important that parents discuss the
harm of tanning beds with children. There is no such thing as a ‘safe’ tanning bed.
 A further analysis of your genes indicates that you are not at increased risk of multiple sclerosis if you have low
vitamin D levels. This was assessed because sun-protective behaviors may cause vitamin D deficiency.
Disease Interventions
 All suspicious moles or abnormalities of the skin or eyes should be evaluated by a doctor.
 Any moles that appear to be abnormal can be biopsied and, if necessary, surgically removed by a doctor.
 If melanoma is diagnosed during an early stage (such as before it grows significantly and spreads) then it can be
surgically removed from the body by a dermatologist or plastic surgeon. This has the potential to be a cure.
However, the probability of cure decreases significantly if melanoma is not detected & removed at an early stage.
Additional Information
 Melanoma Research Foundation: www.melanoma.org
 American Cancer Society: www.cancer.org/Cancer/SkinCancer-Melanoma
 Pictures of melanoma (useful for self-exams): www.mayoclinic.com/health/melanoma/DS00575
Arthritis
(Osteoarthritis)
Osteoarthritis, commonly referred to as just “arthritis,” results from the “wear and tear” on a person’s joints that
occur over his or her life. When the cartilage in a joint wears down and osteoarthritis manifests, it can have a very
detrimental impact on a person’s job, hobbies, and overall lifestyle. This condition is one of the leading causes of
chronic disability throughout the world.
Osteoarthritis cannot be cured, although it can be treated with surgery (such as joint replacement) and symptoms can usually be
somewhat controlled with medications. In order to avoid surgery and/or medications, preventive measures should be taken
throughout life. While wear and tear to joints can’t be entirely avoided, knowing your genetic risk of developing arthritis in
specific key joints will allow you to take the protective measures that will help to preserve your joint function later in-life.
Your genes indicate you have a Your Risk of Osteoarthritis

Knee Your Lifetime Risk of Knee Arthritis:
HIGH RISK for Knee High (60%)
Arthritis Normal Generic Lifetime Risk: 47%
Hip Your Lifetime Risk of Hip Arthritis:

SLIGHTLY INCREASED RISK Slightly Increased (27%)
for Hip Arthritis Normal Generic Lifetime Risk: 25%
Wrist Your Lifetime Risk of Wrist Arthritis:

SLIGHTLY INCREASED RISK Slightly Increased (33%)
for Wrist Arthritis Normal Generic Lifetime Risk: 30%
Clinical Significance of Osteoarthritis Actionability

This potential condition can have a significant Specific measures have been shown to help prevent
impact upon your health & wellness. or delay the progression of this condition.
Onset & Symptoms
Osteoarthritis usually occurs after the age of 50 because of wear and tear to joints throughout life. By age 70, almost 100% of
people have some degree of arthritis in one or more joints. Symptoms usually include pain and stiffness when moving the
affected joints, especially following exercise. Over time the affected joints are also likely to become stiffer and harder to move.
move. Genetically Tailored Prevention

Monitoring Lifestyle Modifications
 Your Internist can determine whether you have  Maintain an optimal weight throughout life and, if
osteoarthritis by conducting a physical exam. you are overweight, the Paleo diet can help you
lose those extra pounds. Being overweight
 X-rays may help your doctor identify joints that are
progressing towards, or already in the early stages significantly increases the risk of this condition
of, osteoarthritis. and greatly exacerbates arthritis if it occurs.
 Throughout life, consider avoiding or reducing
Medications & Supplements exercises and sports that involve considerable
 In large studies, glucosamine supplementation has stress and impact to the joints that are at increased
not been proved effective in preventing or treating risk of arthritis.
osteoarthritis although some people do report that  Due to your increased risk of hip and knee
it helps alleviate some symptoms. arthritis, when exercising focus on biking,
 Anti-inflammatory supplements such as a special swimming, or the elliptical machine as opposed to
formula of Curcumin called Longvida® may help running. Avoid squats at the gym and limit sports
protect joints. Optimizing Pregnenolone levels, a that put stress on your knees, such as skiing.
hormone that can be evaluated by a healthcare  Avoid wearing high heels often (such as multiple
provider, may also help decrease arthritis pain. times a week) as this will further increase your risk
 Weight management and limiting/avoiding physical of knee arthritis.
impact and injury to joints at risk of arthritis are  Due to your increased risk of wrist arthritis, avoid
currently the best ways to help prevent or delay the boxing and heavy overhead lifting.
onset of this condition.  For those already diagnosed with arthritis,
Alternative Interventions moderate exercise is important and has been
shown to significantly reduce pain and increase
 In some studies acupuncture has been shown to function in affected joints. Walking, biking,
help alleviate some symptoms but has not yet been swimming, and yoga are excellent.
shown to help prevent arthritis from occurring. §
Myths & Misconceptions Additional Resources
 Cracking knuckles does not cause arthritis.  Arthritis Foundation: www.arthritis.org
Osteoporosis
Osteoporosis, which results from low bone mineral density (BMD), causes bones to
become weak and brittle. This greatly increases the risk of breaking a bone if the bone is
exposed to stress or pressure, such as when a person falls. While osteoporosis itself does
not cause death, oftentimes breaking a bone, such as a hip, later in life can result in a
person going from living independently to requiring daily medical care and possibly moving
into a rehabilitation center or a nursing home.
Osteoporosis primarily affects postmenopausal women because of the decrease in estrogen.
Approximately one third of all postmenopausal women have osteoporosis and almost one in
every two women with this condition will eventually fracture a bone. While risk of bone fracture due to osteoporosis
is different for each person, the bones in the hips, wrists, legs, and vertebral column (back) are usually most
susceptible.
This condition can be prevented. Enacting various preventions throughout life, especially getting proper nutrition
and doing specific fitness exercises during the teenage years and beyond, will strengthen bones and help prevent
osteoporosis. This will help a woman maintain her wellness and independence later in life.
Please note that the majority of genetic studies of osteoporosis have focused solely on females and, therefore, the genetic analysis of
osteoporosis risk is applicable only to women.
Your genes indicate you have a
MODERATE RISK for
Osteoporosis
Clinical Significance Your Risk of Osteoporosis Actionability

This potential condition Your Lifetime Risk: Moderate (38%) Preventive measures have been
can have a significant impact Normal Generic Lifetime Risk: 30% shown to help prevent or delay
upon your health & wellness. the progression of this condition.
Onset & Symptoms
While osteoporosis may not be evident until after menopause, thinning of the bones (a decrease in bone mineral density)
frequently starts in a woman’s early 30s. Osteoporosis usually does not have any symptoms, although some women may
experience low back pain. Once a woman has osteoporosis, she is much more likely to fracture one or more bones.
Genetically Tailored Prevention

Monitoring Lifestyle Modifications & Interventions
 Discuss with your healthcare provider a test that will  Performing weight-bearing exercises, such as
measure your bone mineral density (BMD) in order lifting weights and resistance training, helps
to determine if you have, or are progressing strengthen bones throughout life and is one of the
towards, osteoporosis. best preventions. Starting at age 20, consider
 Consider having your vitamin D levels checked at integrating strength training into your exercise
least once a year and, if low, discuss vitamin D regimen at least three times per week. Focus on
supplementation with your healthcare provider. strengthening the hips, legs, arms, wrists, & back.
Medications  Cardio exercises, such as swimming, biking, and
 Making sure your hormones are optimized the elliptical trainer do NOT strengthen bones.
throughout life is incredibly important for bone While these exercises are great for heart health,
health and to protect you from osteoporosis. Your they will not protect you against osteoporosis.
Eternity physician will be able to monitor your  Avoid smoking cigarettes or other tobacco
hormone levels and, if indicated, prescribe bio- products as these increase risk of osteoporosis by
identical hormone replacement therapy. impeding the body’s ability to strengthen bones.
Myths & Misconceptions Diet & Nutrition
 “It’s a disease of old-age.” Thinning of the bones  Malnutrition, inadequate diet, and/or being
(pre-osteoporosis) usually starts when a woman is in underweight greatly increase risk of osteoporosis.
her early 30s. Prevention should start in a woman’s Focus on proper nutrition (avoid extreme dieting)
early 20s and continue throughout life. and avoid being underweight even as a teenager.
 “I’ll just take more calcium.” Taking calcium  Limit alcohol intake as heavy alcohol consumption
supplements beyond your daily requirement (greater than 2-3 drinks per day) increases risk.
(1,000mg for those under 50 and 1,200mg for those  Limit consumption of all soft drinks, which have
over 50) will not protect you from osteoporosis. been shown in some studies to increase risk. §
Proper nutrition and weight-bearing exercises
throughout life are most important. Additional Resources
 National Osteoporosis Foundation: www.nof.org
Malignant Hyperthermia
Malignant Hyperthermia is a rare condition that causes a life-threatening increase in body temperature upon
exposure to certain general anesthesia medications routinely used during surgical procedures. The majority of
people with this disease do not have any warning signs or symptoms until they are exposed to the triggering
medications during surgery, and the disease doesn’t always manifest each time a person is exposed to anesthesia.
If a person has a genetic variant that causes this condition, he or she is predisposed to Malignant Hyperthermia.
Numerous preventive measures have been shown to significantly decrease the risk of its potentially harmful effects.
The most important prevention is for a person and his or her healthcare provider to know a genetic predisposition
to this condition exists before they are ever given general anesthesia.
Your Genetic Assessment

You are likely
NOT AFFECTED
Clinical Significance Your Risk of Actionability

Malignant Hyperthermia
This potential disease This genetic test did not detect any Preventive measures
can have a very significant impact genetic mutations associated with have been shown to help prevent
upon your health & wellness. Malignant Hyperthermia. the onset of this disease.
Monitoring Additional Information

 Because your genetic screening indicates you are not  If you are interested in learning more about this
likely to be affected by this condition, no special condition, you can visit the Malignant
monitoring is required. Hyperthermia Association of the United States’
website at: www.mhaus.org
Dante Labs
Heart Attack
Coronary Artery Disease
A heart attack occurs when the blood supply to the heart is interrupted, causing some heart
tissue to die. A heart attack is an emergency because it may cause sudden death or, following a
heart attack, the heart may not function correctly. The most common cause is a build-up of
plaque in one of the blood vessels feeding the heart, a condition referred to as coronary artery
disease (CAD), which is related to high cholesterol levels.
Over one million people suffer a heart attack each year in the United States and about 40% of
these people will die from the heart attack. Heart disease, including heart attacks, is the leading
cause of death in the world but numerous preventive measures exist. Your healthcare provider
will now be able to use this report to genetically tailor a plan to protect your heart.
Your genes indicate you have a Onset & Symptoms

You are at greatest risk of a heart
MODERATE RISK of a Heart Attack due to attack both before and after the
age of 50.
Coronary Artery Disease
Symptoms of a heart attack include
chest pain or pressure that may
radiate down the left arm or up to
the jaw as well as shortness of
breath, fatigue, sweating and
nausea/vomiting.
Clinical Significance Your Lifetime Risk Actionability A heart attack is an emergency and
This potential disease Your Lifetime Risk: Preventive measures have if you think you are having one,
is very important to been shown to help you should immediately go to an
Moderate (41%)
your health & wellness. prevent or delay onset or emergency room, call an
Normal Lifetime Risk: 25%
progression of this disease. ambulance, or call 911.

Monitoring Lifestyle Modifications
 Because of your genetic risk for heart disease it is  Completely stop smoking cigarettes and using all
important to focus on a nutrition plan that is low in tabacco products throughout your life as they will
carbohydrates and grains, such as the Paleo diet. signifciantly speed up the build up of cholesterol in your
arteries and greatly increase your likelyhood of having a
 Numerous tests, including blood tests and radiologic
heart attack.
exams, will be administered by your physician every  Avoid all fried foods and significantly decrease
year to monitor for high cholesterol levels, coronary consumption of foods & beverages that are high in
artery disease (CAD) and heart attacks. cholesterol, saturated fat, or refined sugars.
 Your healthcare provider will closely monitor your  Maintain a normal weight throughout life, especially
CRP, homocysteine and HgA1C levels, which are after the age of 40. Even being moderately overweight,
biomarkers that, when elevated, may indicate the such as just having love handles, can significantly
need for specific interventions and more frequent increase your risk of a heart attack.
monitoring to protect against heart attacks.  Perform cardiovascular exercise for at least 30 minutes
 It is important to have a yearly exam with your per day, four or more times per week. Based upon your
healthcare provider so that she or he may monitor genes, focus on power -based cardio exercises suchas
for, and aggressively treat, conditions that will interval training. A fitness trainer can help ensure your
further increase your risk of CAD and heart attacks, exercise regimen is appropriate.
including silent inflammation and diabetes.
Complementary Preventions
 A unique high dose Liquid Fish Oil (4.6g per
teaspoon) is likely to protect your heart and blood
vessels. Your healthcare provider will be able to
provide you with the exact dose that will provide the
greatest benefit.
 Based on these results and assessment of your
biomarkers, your physician will now be able to
customize a regimen of supplements that will protect
your heart and blood vessels.
 Reducing stress in your life may also help decrease Additional Information
your risk of a heart attack. Consider activities that  American Heart Association: www.americanheart.org
help you reduce your stress and also relaxation
techniques, such as yoga or meditation.  Society of Heart Attack Prevention & Eradication:
www.shapesociety.org
Medication Assessment
for Cardiovascular Health
Medications
As with the rest of your report, the following information is based solely upon an analysis of your genes. Other factors not
analyzed within this report, such as other medications you take, your age, gender, and weight, may also affect whether the
following medications are likely to be effective and/or cause side effects. Please do not stop or modify any medications you
are currently taking because of the information below unless instructed to do so by your doctor.
 means that no significant findings were detected.

+ means that an important finding was detected and should be dicussed with your healthcare provider.
ANTICOAGULANTS (thins the blood)
Warfarin (Coumadin®) 
Warfarin (Coumadin®) Slight Resistance Detected
 You may need a slightly higher maintenance dose of warfarin. Based upon your genes, the US FDA suggests a
maintenance dose of between approximately 5 and 7mg/day may be optimal in maintaining an appropriate
therapeutic response to this medication.
ANTITHROMBOTICS (makes blood less sticky and less likely to form clots)
Clopidogrel (Plavix®) +
Impaired Clopidogrel Effectiveness Detected
 You are a poor metabolizer (poor activator) of clopidogrel and are therefore likely not to be able to effectively
convert clopidogrel to its active metabolite.
 If this medicaiton is needed, your doctor may decide to start clopidogrel at a 600mg loading dose and continue
with a 150mg daily maintenance dose.
 Your doctor may also use a platelet aggregation assay (or other platelet function assessment) to monitor the
effect of the clopidogrel.
 Avoid using clopidogrel with omeprazole (Prilosec®), a common medication used to decrease stomach acid.
 Due to clopidogrel’s potential ineffectiveness, your doctor may decide to start you on a different drug.
Aspirin 
 Aspirin is likely to be effective in helping to prevent heart attacks and strokes.
CHOLESTEROL LOWERING MEDICAITONS

Statins (such as Lipitor®, Crestor®, Zocor®, etc.) 
 Statin Adverse Reaction not detected: You are at very low risk (~0.6%) of adverse reactions, which may include
severe muscle pains, with statins.
 Your genes indictae that you may be able to reduce (by around 40%) your risk of death or a major cardivascular
event such as a heart attack if you are prescribed high-dose atorvastatin therapy (80mg) compared to standard-
dose pravastatin therapy.
ASSOCIATED CONDITIONS
Blood Clot Risk including Deep Vein Thrombosis (DVTs) 
 Normal Risk:You do not have any genes that are increasing your risk of blood clots such as DVTs.
Genetic Report20430544 Dante Labs
Preventable Sudden Death

due to a Heart Arrhythmia
Sudden death can be caused by a heart arrhythmia, which is an abnormality in the heart’s electrical conduction
system that can affect newborns, children, and adults. Many times this abnormality is caused by a change in a gene
that a person is born with.
Unfortunately, people with an abnormal gene usually do not have any symptoms, and the first presentation of the
condition is death itself. Therefore, without genetic testing they remain unaware of this life -threatening
predisposition.
Once a healthcare professional knows about the condition, however, heart arrhythmias can be treated and sudden
death can likely be prevented through various interventions, such as medications.
If a person has a change in a gene associated with sudden death, his or her risk of death increases even further
during exercise. If you’ve ever heard a news story about an athlete who collapsed and died while exercising or
playing a sport, many times it is because the person’s genes were predisposing him or her to sudden death, and
because no one knew of this predisposition, death could not be prevented.
Due to the potential seriousness of this condition, if you are found to be predisposed to a heart arrhythmia then
you should discuss the results with your healthcare provider. You may also want to consider having these results
verified, such as by having a confirmatory genetic test.
Your Genetic Assessment

You ARE Predisposed
to a Heart Arrhythmia
Clinical Significance Your Risk of a Heart Arrhythmia Actionability

This potential condition can You are predisposed to Preventive measures have been
have a very significant impact upon preventable sudden death shown to help prevent or delay the
your health & wellness. due to a heart arrhythmia. progression of this condition.
ALERT: You do have a change in a gene (a mutation) that has been found to predispose a person to a heart arrhythmia.
Having this mutation does NOT automatically mean that something is wrong with your heart. Instead, this information is a
warning that it is important to have your heart evaluated by a cardiologist in order to determine if you do have this condition.
Monitoring Lifestyle Modifications & Interventions

 Due to a change in your DSP gene, you are at  Because the risk of a life-threatening abnormal
increased risk for a condition called heart beat (arrhythmia) increases substantially
Arrhythmogenic Right Ventricular Dysplasia when the heart beats faster, you should avoid
(ARVD) that may cause sudden death. exercising, playing sports, and stressful events until
 It is very important that you inform your physician you are evaluated by a doctor.
that a genetic test indicated you may have ARVD,  An EKG and echocardiogram (both painless tests)
because you need to be further assessed as soon as will help determine whether you have ARVD.
possible by an internist or cardiologist.
 If you have this condition, your doctor may
 Most of the time, ARVD is symptomless.
However, sometimes people may experience prescribe medications, such as beta blockers, or
shortness of breath, chest pain, dizziness, fainting, medical devices such as an external defibrillator for
fatigue, or heart palpitations. If you experience any your home or an implantable defibrillator. These
of these symptoms, it’s important you contact your may protect you against sudden death.
doctor immediately.  It is extremely important that you limit your use of
 Your blood relatives may have also inherited this alcohol and avoid using stimulants, such as
predisposition and therefore they should also be caffeine and nicotine, and narcotics, such as
screened by a doctor. cocaine and methamphetamines.
Medications Additional Resources

 Avoid diuretics and other medications that may  Sudden Arrhythmia Death Syndromes Foundation:
cause dehydration. Also avoid stimulants such as www.sads.org
pseudoephedrine (Sudafed).
 Talk with your doctor before starting any new  Johns Hopkins Medicine ARVD :
medication, including those sold over the counter. www.arvd.com
Genetic Profile
Disease or Condition Your Risk Status
Medications
Severe Adverse Reactions to Abacavir No Increased Risk Detected
Effectiveness of High Dose Atorvastatin (Lipitor®) vs

Standard Dose Pravastatin (Pravachol®) to Protect No Additional Benefit Detected
against Coronary Artery Disease
Risk of Adverse Reactions to Statins

VERY LOW RISK OF ADVERSE REACTION (0.6%)
(Severe Muscle Pain)
Normal Effectiveness of Aspirin (Aspirin likely to

Aspirin Effectiveness be effective in protecting against blood clots,
heart attacks, and strokes.)
Clopidogrel (Plavix®) Effectiveness GREATLY REDUCED EFFECTIVENESS
WARFARIN RESISTANCE (MAY NEED SLIGHTLY

Warfarin (Coumadin®) Dosing HIGHER LOADING DOSE AND MAINTENANCE (~5-
7MG/DAY) DOSE)
Adverse Reaction to Nitrous Oxide No Increased Risk Detected
Mercaptopurine and Azathioprine Adverse

No Increased Risk Detected
Reactions due to ITPA
Mercaptopurine and Azathioprine Dosing & Toxicity

due to TPMT
Dihydropyrimidine Dehydrogenase Deficiency &

RISK DETECTED
Possible 5-FU Toxicity
Susceptibility to Postanesthetic Apnea with

Succinylcholine, Mivacurium or Suxamethonium No Increased Risk Detected
due to BCHE Gene
Normal Metabolism of Phenytoin (Approximate

Phenytoin Metabolism & Dosing
Mean Daily Phenytoin Dose = 354/mg)
Adverse Reactions to Sulfonylureas No Increased Risk Detected
Cancer
Adrenocortical Carcinoma No Increased Risk Detected
Breast Cancer SLIGHTLY INCREASED RISK
Breast Cancer with Radiation Exposure No Increased Risk Detected
Colorectal Cancer HIGH RISK
Genetic Profile
Heart & Blood Vessels
(Cardiology)
Atrial Fibrillation INCREASED RISK
MTHFR Deficiency That May Lead to Blood Clots

and Cardiovascular Disease No Increased Risk Detected
(Reversible with Special Methyl B Vitamins)
Salt-sensitive Hypertension INCREASED RISK
Child Development
Effect of Breastfeeding as a Baby on IQ BREASTFEEDING AS A BABY MAY INCREASE IQ
Fertility
Congenital Bilateral Absence of Vas Deferens No Increased Risk Detected
Obstructive Azoospermia No Increased Risk Detected
Digestive Tract & Liver

(Gastroenterology)
Lactose Intolerance RISK DETECTED
Liver Disease No Increased Risk Detected
Hirschsprung Disease No Increased Risk Detected
Blood
(Hematology)
Blood Clot Risk due to Factor V Leiden No Increased Risk Detected
Blood Clot Risk due to Prothrombin 20210 No Increased Risk Detected
Blood Clot Risk due to Protein C Deficiency No Increased Risk Detected
Blood Clot Risk due to Protein S Deficiency No Increased Risk Detected
Genetic Profile
Hematology continued
Blood Clot Risk due to Antithrombin III Deficiency No Increased Risk Detected
Bleeding Risk due to Factor V Deficiency No Increased Risk Detected
Bleeding Risk – Factor XI Deficiency No Increased Risk Detected
Bleeding Risk – Von Willebrand Disease, Type 2M No Increased Risk Detected
Bleeding Risk due to Prothrombin Deficiency No Increased Risk Detected
Bleeding Risk – Von Willebrand Disease, Type 1 No Increased Risk Detected
Bleeding Risk – Von Willebrand Disease, Type 2B No Increased Risk Detected
Hemochromatosis No Increased Risk Detected
Drug-induced Hemolysis No Increased Risk Detected
Hemolytic Anemia due to Triosephosphate

Isomerase Deficiency
Homocystinuria No Increased Risk Detected
Thrombotic Thrombocytopenic Purpura No Increased Risk Detected
Idiopathic Pancreatitis No Increased Risk Detected
Susceptibility to Lead Poisoning due to ALAD Gene Increased Susceptibility Detected
Neurology
Brain Aneurysm INCREASED RISK
Pulmonology
Alpha-1-Antitrypsin Deficiency No Increased Risk Detected
Asthma RISK DETECTED
Bronchiectasis No Increased Risk Detected
Genetic Profile
Pulmonology continued
Emphysema No Increased Risk Detected
Chronic Respiratory Disease No Increased Risk Detected
Infectious Disease
Resistance to HIV Infection No Resistance Detected
Susceptibility to West Nile Virus Normal Susceptibility
Recurrent Bacterial Infections No Increased Risk Detected
Increased Risk of Disseminated Infection with

Mycobacterium avium and Salmonella No Increased Risk Detected
enteritidis
Hearing (Audiology)
Noise-induced Hearing Loss LOWER RISK
Dante Labs
Your Genetic Testing Data
Variant ID column lists the No Risk column Your Genetic Makeup column refers to the exact letters of YOUR genetic
exact position that was tested refers to the letter makeup at that position (column #1) in that gene (column #2). Single Reference(s) column refers to
for within the gene listed in of the genetic code Risk column refers to most genes come in pairs, there are usually two letters at each position. the scientific research studies
column #2. This variant ID can that is usually not the letter of the If only one letter is listed, this means you only have one copy of that gene that found that the specific
be thought of as the exact associated with genetic code that is (which is perfectly normal for some genes). position (column #1) within the
“GPS coordinate” within the having an increased likely to be associated gene (column #2) is associated
gene. or decreased risk of with having either an The letters of the genetic code are G, A, T, and C. You may also see an I with the specific disease,
the disease, increased or decreased (Insertion) or D (Deletion). Two dashed lines “--“ means that variant’s condition, or trait listed in
condition, or trait risk of the disease, data did not pass quality control and therefore the data was excluded column #6. You can find these
listed in column #6. condition, or trait from your analysis. papers by either searching
Gene column
listed in column #6. pubmed.com or Google for the
refers to the
reference listed (one at a time)
gene that’s Condition / Trait Assessed column lists what exactly is along with the Gene and the
being tested for being analyzed at that specific position within the gene name of the condition.
in that row. listed in column #2.
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
70740 MTCYB G A G Insurmountable Exercise-induced Fatigue Bouzidi (1993), Dumoulin (1996), Andreu (1999)
73822 MTTG T C T Insurmountable Exercise-induced Fatigue Nishigaki (2002)

North (1999), Suminaga (2000), Yang (2003), MacArthur (2004), Niemi (2005), Lucia (2006),
44 ACTN3 C T TT Athletic Predisposition MacArthur (2007), Moran (2007), Roth (2007), Santiago (2008), Eynon (2009), Shang (2010),
Berman (2010)
40652 AMPD1 G A GG Surmountable Exercise-induced Fatigue Morisaki (1992), Rico-Sanz (2003), Lucia (2005)
Ingram (1959), Ingram (1956), Dozy (1978), Mears (1981), Kan (1982), Orkin (1982),
19985 HBB T A TT Exercise-induced Muscle Damage (Sickle Cell Trait) Antonarakis (1984), Pagnier (1984), Nagel (1985), Jenkins (1987), Lapoumeroulie (1992),
Kulozik (1986), Ragusa (1988), Zeng (1994), Sammarco (1988), Currat (2002), Embury (
Acheson (1960), Nieves (1994), Fogdell (1995), Willer (2005), Munger (2006), Smolders
70073 HLA-DRB1 C A AA Risk of Multiple Sclerosis (Vitamin D supplementation advised) (2008), Ramagopalan (2008), Ramagopalan (2009), Handunnetthi (2010), Wu (2010),
Benesová (2011), Lonergan (2011)
51103 CDKN2A C A CC Melanoma, Cutaneous Malignant MacGeoch (1994), Holland (1995), Hayward, (1996), Borg (1996), Liu (1999), Liu (1999)
51126 CDKN2A C G CC Melanoma, Cutaneous Malignant Holland (1995), Monzon (1998), MacKie (1998)
51145 CDKN2A C G CC Melanoma, Cutaneous Malignant Walker (1995), Harland (1997), Monzon (1998), Pollock (1998), MacKie (1998)
51152 CDKN2A A C AA Melanoma, Cutaneous Malignant Soufir (1998), Ruiz (1999), Yakobson (2001), Yakobson (2003)
Dante Labs
51183 CDKN2A C A CC Melanoma, Cutaneous Malignant Hussussian (1994), Mori (1994), Whelan (1995), Ciotti (1996)
51197 CDKN2A C G CC Melanoma, Cutaneous Malignant Hewitt (2002)
51199 CDKN2A A T AA Melanoma, Cutaneous Malignant Goldstein (2001)
51212 CDKN2A T C TT Melanoma, Cutaneous Malignant Harland (2001)
102407 9p21 A G GG Melanoma Bishop (2009)
102405 22q13 A G AA Melanoma Bishop (2009)
45635 BRCA2 A G AA Melanoma Scott (2002)
102409 MATP C G CC Melanoma Duffy (2009) , Fernandez (2008) , Guedj (2008)
9162 MC1R G A GG Melanoma Landi (2006)
101962 MC1R G T GG Melanoma Landi (2006)
102406 PIGU G A GG Melanoma Brown (2008)
74814 TYRP1 T C CC Melanoma Gudbjartsson (2008), Duffy (2010)
9169 MC1R C T CC Melanoma Landi (2006)
101976 MC1R G A GG Melanoma Landi (2006)
101977 MC1R T C TT Melanoma Landi (2006)
102090 MC1R C A CC Melanoma Landi (2006)
73103 OCA2 T C CC Melanoma Duffy (2010), Sturm (2008), Chatzinasiou (2010)
100964 TYR G A GA Melanoma Bishop (2009)
102404 CDK10 G A GA Melanoma Bishop (2009)
9247 CDK4 G A GG Melanoma Zuo (1996), Soufir (1998)
9259 CDK4 C T CC Melanoma Grimstvedt (1969), Soufir (1998), Molven (2005)
9260 CDK4 T C TT Melanoma Guldberg (1997)
9261 CDK4 C T CC Melanoma Holland (1999)
800946 CDKN2A C A CC Melanoma MacGeoch (1994), Holland (1995), Borg (1996), Hayward (1996), Liu (1999)
Dante Labs
800949 CDKN2A C G CC Melanoma Walker (1995), Harland (1997), Monzon (1998), MacKie (1998)
800950 CDKN2A A C AA Melanoma Soufir (1998), Ruiz (1999), Yakobson (2001), Yakobson (2003)
800951 CDKN2A C A CC Melanoma Hussussian (1994), Mori (1994), Whelan (1995), Ciotti (1996)
800952 CDKN2A A T AA Melanoma Goldstein (2001)
51211 CDKN2A C A CC Melanoma Lynch (2002)
800953 CDKN2A T C TT Melanoma Harland (2001)
51213 CDKN2A C T CC Melanoma Peris (2004)
51092 CDKN2A C A -- Melanoma Ruiz (1999), Rajasekaran (2008)
51093 CDKN2A G A GG Melanoma Ranade (1995)
51116 CDKN2A G T GG Melanoma Niendorf (2006)
51118 CDKN2A C T CC Melanoma Fitzgerald (1996)
51119 CDKN2A C T CC Melanoma Holland (1999)
51120 CDKN2A A G AA Melanoma Soufir (1998)
51121 CDKN2A A C AA Melanoma Goldstein (2000)
51124 CDKN2A C A CC Melanoma Blackwood (2002)
51125 CDKN2A C T CC Melanoma Soufir (1998)
51127 CDKN2A C A CC Melanoma Ghiorzo (2006)
51128 CDKN2A A C AA Melanoma Blackwood (2002)
51129 CDKN2A A G AA Melanoma Walker (1995)
51130 CDKN2A C T CC Melanoma Goldstein (2006)
51131 CDKN2A C G CC Melanoma Walker (1995)
51132 CDKN2A C G CC Melanoma Holland (1999)
51133 CDKN2A G C GG Melanoma Goldstein (2006)
51134 CDKN2A G T GG Melanoma MacKie (1998)
Dante Labs
51135 CDKN2A G A GG Melanoma Platz (1997)
51137 CDKN2A A G AA Melanoma Ranade (1995)
51138 CDKN2A A C AA Melanoma Lal (2000)
51140 CDKN2A T C TT Melanoma Walker (1995)
51141 CDKN2A G A GG Melanoma Bartsch (2002)
51142 CDKN2A C A CC Melanoma Goldstein (2006)
51143 CDKN2A A G AA Melanoma Orlow (2001)
51146 CDKN2A T C TT Melanoma Yang (2004)
51147 CDKN2A C A CC Melanoma Chaubert (1997)
51148 CDKN2A C A CC Melanoma Soufir (1998)
51149 CDKN2A G A GG Melanoma Soufir (1998)
51150 CDKN2A G A GG Melanoma Hussussian (1994)
51154 CDKN2A A G AA Melanoma Soufir (1998)
51155 CDKN2A A G AA Melanoma Goldstein (2007)
51156 CDKN2A A G AA Melanoma Landi (2004)
51159 CDKN2A C T CC Melanoma Rizos (2001)
51160 CDKN2A C G CC Melanoma Bishop (1999)
51161 CDKN2A G A GG Melanoma Fitzgerald (1996)
51162 CDKN2A T C TT Melanoma Goldstein (2006)
51163 CDKN2A G C GG Melanoma Soufir (2004)
51164 CDKN2A T C TT Melanoma Hussussian (1994)
51165 CDKN2A T A TT Melanoma Fargnoli (1998)
51166 CDKN2A G T GG Melanoma Soufir (1998)
51167 CDKN2A C A CC Melanoma Mantelli (2004)
Dante Labs
51168 CDKN2A T G TT Melanoma Soufir (2004)
51169 CDKN2A G A GG Melanoma Orlow (2001)
51170 CDKN2A G T GG Melanoma Lang (2005)
51172 CDKN2A T G TT Melanoma Orlow (2001)
51173 CDKN2A C T CC Melanoma Fitzgerald (1996)
51174 CDKN2A G C GG Melanoma Lynch (2002)
51175 CDKN2A G A GG Melanoma Ruiz (1999)
51177 CDKN2A C G CC Melanoma Hussussian (1994)
51179 CDKN2A A T AA Melanoma Avbelj (2003)
51180 CDKN2A A C AA Melanoma Soufir (1998)
51182 CDKN2A C G CC Melanoma Soufir (1998)
51187 CDKN2A G T GG Melanoma Fujimoto (1999)
51188 CDKN2A G A GG Melanoma Fitzgerald (1996)
51189 CDKN2A C T CC Melanoma Foulkes (1997)
51190 CDKN2A C T CC Melanoma Stratigos (2006)
51191 CDKN2A G C GG Melanoma Rizos (2001)
51192 CDKN2A G A GG Melanoma Fargnoli (1998)
51193 CDKN2A G A GG Melanoma Auroy (2001)
51195 CDKN2A C T CC Melanoma Harland (1997)
51196 CDKN2A C A CC Melanoma Yakobson (2000)
51198 CDKN2A C G CC Melanoma Holland (1999)
51200 CDKN2A C G CC Melanoma Lynch (2002)
51205 CDKN2A T A TT Melanoma Orlow (2001)
Dante Labs
51206 CDKN2A G C GG Melanoma Harland (2005)
51207 CDKN2A C G CC Melanoma Chaubert (1997)
51208 CDKN2A C G CC Melanoma Petronzelli (2001)
51209 CDKN2A T G TT Melanoma Lynch (2002)
51211 CDKN2A C A CC Melanoma Lynch (2002)
51213 CDKN2A C T CC Melanoma Peris (2004)
51215 CDKN2A C A CC Melanoma Hussussian (1994)
51221 CDKN2A T C TT Melanoma Harland (2005)
51223 CDKN2A C T CC Melanoma Harland (2005)
51224 CDKN2A C G CC Melanoma Hewitt (2002)
51225 CDKN2A A G AA Melanoma Harland (2005)
6656 KCNJ2 T C TT Ventricular Tachycardia, Polymorphic Chun (2004)
71853 MTTL1 T C T Sudden Infant Death Syndrome NOS Opdal (1999)
4317 KCNH2 C T CC Sudden Infant Death Syndrome Arnestad (2007)
39161 DES C T CC Restrictive Cardiomyopathy Arbustini (2006)
39186 DES C T CC Restrictive Cardiomyopathy Arbustini (2006)
3262 TNNI3 G A GG Restrictive Cardiomyopathy Perry (1999), Mogensen (2003)
3269 TNNI3 T C TT Restrictive Cardiomyopathy Perry (1999), Mogensen (2003)
3273 TNNI3 C T CC Restrictive Cardiomyopathy Perry (1999), Mogensen (2003)
2506 ANK2 C A -- Ventricular Tachycardia and Ventricular Fibrillation Mohler (2004)
73820 MTTG T C -- Possible Sudden Death NOS Santorelli (1996), Tomari (2003), Scaglia (2008)
100776 ANKRD1 G C GG Possible Dilated Cardiomyopathy Duboscq-Bidot (2009)
1917 SCN5A C A CC Possible Cause of Sudden Infant Death Syndrome Ackerman (2001), Darbar (2008)
Dante Labs
40587 CAV3 C G CC Long QT Syndrome Vatta (2006)
2789 KCNQ1 T C TT Long QT syndrome Napolitano (2005)
2790 KCNQ1 T G TT Long QT syndrome Zareba (2003)
2791 KCNQ1 G C GG Long QT syndrome Chen (2003)
2508 ANK2 G A GG Long QT Syndrome Mohler (2007)
2530 KCNE2 G A GG Long QT Syndrome Isbrandt (2002)
2593 KCNQ1 G C GG Long QT Syndrome Donger (1997)
2792 KCNQ1 G A GG Long QT syndrome Tester (2005)
2793 KCNQ1 C A CC Long QT syndrome Napolitano (2005)
2794 KCNQ1 G A GG Long QT syndrome Kanters (2004)
2628 KCNQ1 G A GG Long QT Syndrome Splawski (1998)
2639 KCNQ1 G A GG Long QT Syndrome Wang (1996), Jongbloed (1999), Moss (2007), Zhang (2008)
2795 KCNQ1 C T CC Long QT Syndrome Splawski (2000), Yang (2002)
2796 KCNQ1 A G AA Long QT syndrome Napolitano (2005)
2667 KCNQ1 G A GG Long QT Syndrome Wang (1996), Wedekind (2004)
2679 KCNQ1 G A GG Long QT Syndrome Donger (1997)
2799 KCNQ1 G A GG Long QT syndrome Lupoglazoff (2004)
2800 KCNQ1 G A GG Long QT syndrome Neyroud (1999)
2801 KCNQ1 G A GG Long QT syndrome Splawski (2000)
2729 KCNQ1 C T CC Long QT Syndrome, Type 1 Wang (1996), Russell (1996), Wang (1996), Li (1998)
2525 KCNE2 C G -- Long QT Syndrome, Drug-induced Abbott (1999), Ackerman (2003)
2711 KCNQ1 G A GG Long QT Syndrome Russell (1996), Hofman (2007)
2727 KCNQ1 G A GG Long QT Syndrome Tanaka (1997)
2792 KCNQ1 G A GG Long QT Syndrome Tester (2005)
Dante Labs
2802 KCNQ1 G T GG Long QT syndrome Inoue (2003)
2803 KCNQ1 T A TT Long QT syndrome Tester (2005)

Abbott (1999), Sesti (2000), Paulussen (2004), Roden (2004), Gouas (2007), Nakajima (2007),
2513 KCNE2 A G -- Long QT Syndrome, Drug-induced
Marjamaa (2009)
2800 KCNQ1 G A GG Long QT Syndrome Neyroud (1999)
2805 KCNQ1 G A GG Long QT Syndrome Splawski (2000)
2817 KCNQ1 G A GG Long QT Syndrome Murray (1999), Li (1998), Kanters (1998)
2807 KCNQ1 G A GG Long QT syndrome Napolitano (2005)
1891 SCN5A G A -- Long QT syndrome, drug-associated Yang (2002)
1932 SCN5A A G AA Long QT syndrome, drug-associated Yang (2002)
1987 SCN5A A G AA Long QT syndrome, drug-associated Makita (2002)
40583 CAV3 G A GG Long QT Syndrome Vatta (2006)
73578 KCNQ1 G A GG Long QT Syndrome Hofman (2007)
2505 ANK2 T A -- Long QT Syndrome Mohler (2007)
2810 KCNQ1 G A GG Long QT syndrome Ackerman (1999)
2811 KCNQ1 G C GG Long QT syndrome Tester (2005)
2812 KCNQ1 A C AA Long QT syndrome Splawski (2000)
2529 KCNE2 T C TT Long QT Syndrome 7 Abbott (1999)
2528 KCNE2 T C TT Long QT Syndrome 6 Abbott (1999)
800865 KCNE2 T C TT Long QT Syndrome Abbott (1999), Lu (2003), Dumaine (2002)
40584 CAV3 T G TT Long QT Syndrome Vatta (2006)
2813 KCNQ1 G C GG Long QT syndrome Li (1998), Kanters (1998), Murray (1999), Murray (1999)
Dante Labs
2814 KCNQ1 G A GG Long QT syndrome Millat (2006)
3311 TPM1 A C AA Hypertrophic Cardiomyopathy Yamauchi-Takihara (1996)
25791 MYO6 A G AA Hypertrophic Cardiomyopathy Mohiddin (2004)
3174 KCNE1 G A GG Long QT Syndrome 5 Splawski (1997)
3175 KCNE1 C T CC Long QT Syndrome 5 Splawski (1997), Schulze-Bahr (1997), Duggal (1998)
1958 SCN5A C T CC Long QT Syndrome 3 Makita (1998), Kambouris (2000), Miller (2004), Miller (2004), Millat (2006)
73577 KCNQ1 T C TT Long QT Syndrome Hofman (2007)
1813 SCN5A T C TT Long QT Syndrome Wang (1995)
1824 SCN5A G A GG Long QT Syndrome Viswanathan (2003)
6952 DSG2 G A -- Increased RiskArrhythmogenic Right Ventricular Dysplasia Syrris (2007), Posch (2008a), Posch (2008b), Christensen (2010), Quarta (2011)
100771 ANKRD1 G C -- Hypertrophic Cardiomyopathy Arimura (2009)
2815 KCNQ1 G T GG Long QT syndrome Splawski (2000)
2816 KCNQ1 A G AA Long QT syndrome Fodstad (2004)
2817 KCNQ1 G A GG Long QT syndrome Li (1998), Kanters (1998), Murray (1999), Murray (1999)
Harmless Variant (previously associated with Arrhythmogenic
6956 DSG2 T G -- Syrris (2007), Posch (2008)
Right Ventricular Dysplasia, Familial)
6965 DSG2 T G -- Syrris (2007), Kami (2008), Posch (2008a), Posch (2008b), Christensen (2010)
1838 SCN5A C A CC Long QT Syndrome Millat (2006)
1877 SCN5A C T CC Long QT Syndrome Napolitano (2005)
800858 SCN5A G A -- Long QT Syndrome Yang (2002)
1984 SCN5A T C TT Long QT Syndrome 3 Rivolta (2001)
4459 KCNH2 T A TT Long QT Syndrome 2 Splawski (2000), Westenskow (2004)
2818 KCNQ1 G A GG Long QT syndrome Berge (2005)
2819 KCNQ1 G C GG Long QT syndrome Li (1998), Kanters (1998), Murray (1999), Murray (1999)
100777 ANKRD1 G A GG Hypertrophic Cardiomyopathy Arimura (2009)
Dante Labs
2821 KCNQ1 G T GG Long QT syndrome Tester (2005)
3156 KCNE1 C T CC Long QT Syndrome Splawski (2000)

van Tintelen (2006), Koopmann (2007), Krahn (2009), den Haan (2009), Bhuiyan (2009), La
6978 PKP2 C T -- Gerche (2010), Klauke (2010), Fressart (2010), Christensen (2010), Zhang (2011), Cox (2011)
www.arvcdatabase.info/mutationdetails.aspx?VariantID=74 36
Harmless Variant (previously associated with Sudden Infant Death
4318 KCNH2 C T -- Arnestad (2007), Rhodes (2008), Klaver (2011)
Syndrome)
1895 SCN5A G A GG Long QT Syndrome Tester (2005)
Vatta (2002), Ackerman (2004), Wang (2004), Wang (2005), Tan (2005), Chen (2005), Hwang
1924 SCN5A C T -- Long QT Syndrome
(2005), Hwang (2006), Niu (2006), Darbar (2008), Sun (2008), Amin (2011)
2662 KCNQ1 G C GG Long QT Syndrome 1 Millat (2006)
2728 KCNQ1 C A CC Long QT Syndrome 1 Wang (1996), Berthet (1999), Berthet (1999)
3165 KCNE1 C C -- Long QT Syndrome Ma (2003)
3169 KCNE1 G A GG Long QT syndrome Shim (2005)
6760 DSP G C GG Dilated cardiomyopathy, woolly hair, keratoderma Alcalai (2003)
6757 DSP C T CC Dilated Cardiomyopathy with Woolly Hair and Keratoderma Uzumcu (2006)
2798 KCNQ1 G A GG Long QT Syndrome 1 Piippo (2001), Piippo (2001)
1887 SCN5A G T -- Long QT syndrome ? Paulussen (2003)
1937 SCN5A G A GG Long QT Syndrome Wattanasirichaigoon (1999)
1939 SCN5A C T CC Long QT Syndrome Langen (2003), Hofman (2007)
800859 SCN5A C T CC Long QT Syndrome Makita (1998), Kambouris (2000), Miller (2004), Millat (2006)
1822 SCN5A G A -- Harmless Variant Yang (2002)
6749 DSP A G AA Arrhythmogenic Right Ventricular Dysplasia Yang (2006)
6953 DSG2 A G AA Arrhythmogenic Right Ventricular Dysplasia Pilichou (2006)
1544 LDB3 G A -- Dilated Cardiomyopathy with Left Ventricular Noncompaction Vatta (2003)
2156 LMNA C G CC Dilated Cardiomyopathy with Conduction Defects Fatkin (1999), der Kooi (2002)
6859 RYR2 A G AA Catecholaminergic Polymorphic Ventricular Tachycardia Bauce (2002)
Dante Labs
6869 RYR2 A G AA Catecholaminergic Polymorphic Ventricular Tachycardia Tester (2004)
6873 RYR2 A C AA Catecholaminergic Polymorphic Ventricular Tachycardia Tester (2004)
3170 KCNE1 C T CC Long QT syndrome Napolitano (2005)
3171 KCNE1 C A CC Long QT syndrome Bianchi (1999)
3172 KCNE1 A G AA Long QT syndrome Napolitano (2005)
1815 SCN5A G T -- Cardiac Arrhythmia Splawski (2002), Chen (2002), Plant (2006)
1885 SCN5A C T CC Brugada syndrome ? Takahata (2003)
100801 GPD1L A G -- Brugada Syndrome Norstrand (2007)
1979 SCN5A C T CC Long QT Syndrome Wei (1999)
4442 KCNH2 G A GG Long QT syndrome ? Shim (2005)
2504 ANK2 A G AA Long QT Syndrome Mohler (2003)
1991 SCN5A C T CC Long QT Syndrome Napolitano (2005)
1995 SCN5A C T -- Long QT Syndrome Tester (2005)
2004 SCN5A C T -- Long QT Syndrome Larsen (2001)
2716 KCNQ1 A C AA Long QT Syndrome Donger (1997)
2812 KCNQ1 A C AA Long QT Syndrome Splawski (2000)
6652 KCNJ2 A G AA Long QT Syndrome Fodstad (2004)
2162 LMNA C G CC Dilated Cardiomyopathy with Conduction Defects Fatkin (1999)
2163 LMNA A G AA Dilated Cardiomyopathy with Conduction Defects Fatkin (1999)
2160 LMNA G A GG Dilated Cardiomyopathy and Atrial Fribrillation Sebillon (2003)
6840 RYR2 C T CC Arrhythmogenic Right Ventricular Dysplasia d'Amati (2005)
6875 RYR2 A G AA Catecholaminergic Polymorphic Ventricular Tachycardia Laitinen (2001)
Dante Labs
6889 RYR2 A G AA Catecholaminergic Polymorphic Ventricular Tachycardia Priori (2002)
3173 KCNE1 C G CC Long QT syndrome Lai (2005)
3176 KCNE1 T C -- Long QT syndrome Lai (2005)
3177 KCNE1 A G AA Long QT syndrome Bianchi (1999)
68193 GPD1L C T CC Brugada Syndrome Weiss (2002), London (2007)
70515 CACNA1C C T CC Brugada Syndrome Antzelevitch (2007), Burashnikov (2010)
3165 KCNE1 C T CC Long QT Syndrome Ma (2003)
3169 KCNE1 G A GG Long QT Syndrome Shim (2005)
102362 ANK2 A G AA Long QT Syndrome Mohler (2003)
2507 ANK2 C A -- Long QT Syndrome Mohler (2004)
800899 PSEN1 A G AA Dilated Cardiomyopathy 1U Li (2006)
3218 TNNT2 G A GG Dilated Cardiomyopathy 1D Li (2001)
6864 RYR2 C T CC Arrhythmogenic Right Ventricular Dysplasia Tiso (2001)
6963 DSG2 C T CC Arrhythmogenic Right Ventricular Dysplasia Pilichou (2006)
73980 TMEM43 C T CC Arrhythmogenic Right Ventricular Dysplasia Merner (2008)
3178 KCNE1 G A GG Long QT syndrome Splawski (2000)
3179 KCNE1 C T CC Long QT syndrome Schulze-Bahr (2001)
3180 KCNE1 G T GG Long QT syndrome Splawski (2000)
73689 RYR2 A G AA Catecholaminergic Polymorphic Ventricular Tachycardia Hofman (2007)
6841 RYR2 C T CC Catecholaminergic Polymorphic Ventricular Tachycardia Choi (2004)
6844 RYR2 C T CC Catecholaminergic Polymorphic Ventricular Tachycardia Creighton (2006)
73901 CACNB2 C T CC Brugada Syndrome Antzelevitch (2007)
100798 CACNB2 C T CC Brugada Syndrome Cordeiro (2009)
3171 KCNE1 C A CC Long QT Syndrome Bianchi (1999)
Dante Labs
Splawski (1997), Schulze-Bahr (1997), Duggal (1998), Hoppe (2001), Seebohm (2008), Chen
800867 KCNE1 C T CC Long QT Syndrome
(2009)
2509 ANK2 C T CC Long QT Syndrome Mohler (2004)
2531 KCNE2 C T CC Long QT Syndrome Millat (2006)
2532 KCNE2 C T CC Long QT Syndrome Sesti (2000)
3225 TNNT2 C T CC Dilated Cardiomyopathy 1D Mogensen (2004)
1104 DMD A T -- Dilated Cardiomyopathy Feng (2002)
6748 DSP G A GG Arrhythmogenic Right Ventricular Dysplasia Yang (2006)
6750 DSP G A GG Arrhythmogenic Right Ventricular Dysplasia Yang (2006)
4256 KCNH2 A C AA Long QT Syndrome Benson (1996)
4257 KCNH2 C G CC Long QT Syndrome Fodstad (2004)
800979 KCNH2 C A CC Long QT Syndrome Fodstad (2004)
6756 DSP G A GG Arrhythmogenic Right Ventricular Dysplasia Bauce (2005)
6758 DSP G T GT Arrhythmogenic Right Ventricular Dysplasia Bauce (2005)
6762 DSP G A GG Arrhythmogenic Right Ventricular Dysplasia Bauce (2005)
6847 RYR2 C T CC Catecholaminergic Polymorphic Ventricular Tachycardia Bauce (2002)
6850 RYR2 C T CC Catecholaminergic Polymorphic Ventricular Tachycardia Priori (2001)
70516 CACNA1C G A -- Brugada Syndrome Antzelevitch (2007), Burashnikov (2010)
100799 GPD1L G A GG Brugada Syndrome Norstrand (2007)
3178 KCNE1 G A GG Long QT Syndrome Splawski (2000)
3179 KCNE1 C T CC Long QT Syndrome Schulze-Bahr (2001)
3180 KCNE1 G T GG Long QT Syndrome Splawski (2000)
2653 KCNQ1 C T CC Long QT Syndrome Priori (1999)

Franqueza (1999), Chouabe (2000), Dworakowska (2000), Splawski (2000), Zareba (2003),
2660 KCNQ1 C T CC Long QT Syndrome Seebohm (2003), Nemec (2003), Skinner (2004), Choi (2004), Tester (2005), Hofman (2007),
Kapplinger (2009), Albertella (2010), Gladding (2010), Matavel (2010)
Dante Labs
800866 KCNQ1 C T CC Long QT Syndrome Wang (1996), Russell (1996), Li (1998)
800861 LMNA A G AA Dilated Cardiomyopathy Fatkin (1999)
39381 PSEN1 A G AA Dilated Cardiomyopathy Li (2006)
800980 KCNH2 C T CC Long QT Syndrome Fodstad (2004)
4262 KCNH2 T G TT Long QT Syndrome Paulussen (2002), Paulussen (2002)
4256 KCNH2 A C AA Long QT Syndrome Benson (1996)
4260 KCNH2 C T CC Bradycardia-induced Long QT Syndrome Yoshida (2001)
6843 RYR2 G A GG Arrhythmogenic Right Ventricular Dysplasia Tiso (2001)
6951 DSG2 G A GG Arrhythmogenic Right Ventricular Dysplasia Awad (2006)
6851 RYR2 C T CC Catecholaminergic Polymorphic Ventricular Tachycardia Tan (2005)
6870 RYR2 C G CC Catecholaminergic Polymorphic Ventricular Tachycardia Priori (2001)
2759 KCNQ1 C T CC Long QT Syndrome Splawski (2000)
2764 KCNQ1 C T CC Long QT Syndrome Tester (2005)
2773 KCNQ1 C T CC Long QT Syndrome Shimizu (2004)
1821 SCN5A C T CC Brugada Syndrome Vatta (2002)
1840 SCN5A C T CC Brugada Syndrome Priori (2002)
2180 LMNA C T CC Dilated Cardiomyopathy Novelli (2003)
2239 LMNA C T CC Dilated Cardiomyopathy Zeller (2006)
2258 LMNA C T CC Dilated Cardiomyopathy Vytopil (2003)
1867 SCN5A C A CC Brugada Syndrome Vatta (2002)
Dante Labs
4272 KCNH2 C A CC Long QT syndrome Moss (2002)
4273 KCNH2 T C TT Long QT syndrome Rossenbacker (2005)
4274 KCNH2 G T GG Long QT syndrome Splawski (2000)
4262 KCNH2 T G TT Long QT Syndrome Paulussen (2002)
4302 KCNH2 A G AA Long QT Syndrome Larsen (2001)
6960 DSG2 G A GG Arrhythmogenic Right Ventricular Dysplasia Pilichou (2006), Delmar (2010), Lai-Cheong (2007)
6961 DSG2 G A -- Arrhythmogenic Right Ventricular Dysplasia Syrris (2007)
6890 RYR2 C T CC Catecholaminergic Polymorphic Ventricular Tachycardia Laitinen (2003)
800875 DSP C T CC Dilated Cardiomyopathy Uzumcu (2006)
39167 DES C T CC Dilated Cardiomyopathy Taylor (2007)
1872 SCN5A C T CC Brugada Syndrome Rossenbacker (2004)
1881 SCN5A C A CC Brugada syndrome Baroudi (2004)
1897 SCN5A T G TT Brugada Syndrome Priori (2002)
4275 KCNH2 A C AA Long QT syndrome Khositseth (2004)
4276 KCNH2 T G TT Long QT syndrome Chen (1999)
4277 KCNH2 G T GG Long QT syndrome Fodstad (2004)
4320 KCNH2 G A GG Long QT Syndrome Splawski (2000)
4331 KCNH2 A G AA Long QT Syndrome Liu (2002)
4340 KCNH2 G A GG Long QT Syndrome Priori (1999)
6964 DSG2 G T GG Arrhythmogenic Right Ventricular Dysplasia Awad (2006)
6848 RYR2 T C TT Arrhythmogenic Right Ventricular Dysplasia Tiso (2001)
6853 RYR2 G T GG Catecholaminergic Polymorphic Ventricular Tachycardia Priori (2002)
Dante Labs
6857 RYR2 G A GG Catecholaminergic Polymorphic Ventricular Tachycardia Tester (2005)
6861 RYR2 G T GG Catecholaminergic Polymorphic Ventricular Tachycardia Creighton (2006)
39173 DES C T CC Dilated Cardiomyopathy Taylor (2007)
39185 DES C G CC Dilated Cardiomyopathy Li (1999)
1905 SCN5A C T CC Brugada Syndrome Keller (2005)
1909 SCN5A A G AA Brugada Syndrome Priori (2002)
1913 SCN5A G A GG Brugada Syndrome Priori (2002)
4278 KCNH2 T C TT Long QT syndrome Napolitano (2005)
4279 KCNH2 C A CC Long QT syndrome Lupoglazoff (2001)
4362 KCNH2 C T CC Long QT Syndrome Dausse (1996), Zhang (2008), Splawski (2000)
4364 KCNH2 G A GG Long QT Syndrome Curran (1995), Kagan (2000), Splawski (2000)
6735 TGFB3 G A GG Arrhythmogenic Right Ventricular Dysplasia Beffagna (2005)
6736 TGFB3 C T CC Arrhythmogenic Right Ventricular Dysplasia Rampazzo (2003), Beffagna (2005)
6862 RYR2 G A GG Catecholaminergic Polymorphic Ventricular Tachycardia Choi (2004)
6863 RYR2 G C GG Catecholaminergic Polymorphic Ventricular Tachycardia Priori (2001)
4281 KCNH2 C A CC Long QT syndrome Splawski (2000)
4282 KCNH2 C T CC Long QT syndrome Napolitano (2005)
4283 KCNH2 C G CC Long QT syndrome Chen (1999)
39704 PSEN2 C T -- Dilated Cardiomyopathy Li (2006), Tedde (2003)
100758 PLN C T CC Dilated Cardiomyopathy Schmitt (2003)
1933 SCN5A C T CC Brugada Syndrome Shin (2004)
1947 SCN5A T C TT Brugada Syndrome Deschenes (2000)
4389 KCNH2 C T CC Long QT Syndrome Jongbloed (1999), Splawski (2000)
Dante Labs
4396 KCNH2 G A GG Long QT Syndrome Jongbloed (1999), Splawski (2000)
4397 KCNH2 G A GG Long QT Syndrome Tanaka (1997), Zhang (2008), Splawski (2000)
6866 RYR2 G T GG Catecholaminergic Polymorphic Ventricular Tachycardia Tester (2005)
6867 RYR2 G A GG Catecholaminergic Polymorphic Ventricular Tachycardia Priori (2002)
6868 RYR2 G A GG Catecholaminergic Polymorphic Ventricular Tachycardia Tan (2005)
6919 DSC2 T C TT Arrhythmogenic Right Ventricular Dysplasia Heuser (2006)
6980 PKP2 G A GG Arrhythmogenic Right Ventricular Dysplasia Gerull (2004)
1952 SCN5A C T CC Brugada Syndrome Smits (2002)
1971 SCN5A C T CC Brugada Syndrome Smits (2002)
100809 SCN3B A G AA Brugada Syndrome Hu (2009)
6982 PKP2 G A GG Arrhythmogenic Right Ventricular Dysplasia Tintelen (2006)
6984 PKP2 G A GG Arrhythmogenic Right Ventricular Dysplasia Syrris (2006)
6985 PKP2 A G AA Arrhythmogenic Right Ventricular Dysplasia Dalal (2006)
102364 PSEN2 C T -- Dilated Cardiomyopathy Li (2006), Tedde (2003)

Vatta (2003), Arimura (2004), Pilotto (2006), Xing (2006), Sheikh (2007), Moric-Janiszewska
800857 LDB3 G A -- Dilated Cardiomyopathy
(2007), Morimoto (2008), Arimura (2009)
6878 RYR2 G A GG Catecholaminergic Polymorphic Ventricular Tachycardia Veronese (2004)
6879 RYR2 G A GG Catecholaminergic Polymorphic Ventricular Tachycardia Choi (2004)
4284 KCNH2 G A GG Long QT syndrome Tester (2005)
4285 KCNH2 C T CC Long QT syndrome Chen (1999)
4286 KCNH2 C T CC Long QT syndrome Lupoglazoff (2001)
6679 KCNJ2 C T CC Long QT Syndrome Haruna (2007)

Vatta (2006), Reijneveld (2006), Heart Rhythm. (May 2006, PMID: 16688893), Cronk (2007),
40582 CAV3 C T -- Long QT Syndrome
Arnestad (2007), Crotti (2008), www.azcert.org
4409 KCNH2 C T CC Long QT Syndrome Curran (1995), Splawski (2000)
Dante Labs
800874 KCNH2 G A GG Long QT Syndrome Shim (2005)
4454 KCNH2 C T CC Long QT Syndrome Satler (1996), Splawski (2000)
100815 KCNE3 G A GG Brugada Syndrome Delpon (2008)
100803 GPD1L C T CC Brugada Syndrome Van Norstrand (2007)
6986 PKP2 C T CC Arrhythmogenic Right Ventricular Dysplasia Dalal (2006)
800860 LMNA G A GG Dilated Cardiomyopathy Sebillon (2003)
2245 LMNA G T GG Dilated Cardiomyopathy Hermida-Prieto (2004)
6882 RYR2 G T GG Catecholaminergic Polymorphic Ventricular Tachycardia Laitinen (2001)
2252 LMNA G A GG Dilated Cardiomyopathy Muchir (2000), Charniot (2003), Sebillon (2003)
3307 TPM1 G A GG Dilated Cardiomyopathy Olson (2001)
4287 KCNH2 T G TT Long QT syndrome Napolitano (2005)
4289 KCNH2 C G CC Long QT syndrome Napolitano (2005)
4487 KCNH2 G A GG Long QT Syndrome Napolitano (2005)
100806 SCN1B G A GG Brugada Syndrome Watanabe (2008)
6891 RYR2 G A GG Catecholaminergic Polymorphic Ventricular Tachycardia Priori (2002)
6892 RYR2 G A GG Catecholaminergic Polymorphic Ventricular Tachycardia Laitinen (2003)
6877 RYR2 T G TT Catecholaminergic Polymorphic Ventricular Tachycardia Choi (2004)
Dante Labs
6991 PKP2 T G TT Arrhythmogenic Right Ventricular Dysplasia Gerull (2004)
6992 PKP2 C T CC Arrhythmogenic Right Ventricular Dysplasia Tintelen (2006)
4490 KCNH2 C T CC Long QT Syndrome Fodstad (2004)
4492 KCNH2 C T CC Long QT Syndrome Splawski (2000)
4494 KCNH2 C T CC Long QT Syndrome Tester (2005)
4290 KCNH2 C T CC Long QT syndrome Van Langen (2003)
4291 KCNH2 A C AA Long QT syndrome Chen (1999)
4292 KCNH2 A G AA Long QT syndrome Napolitano (2005)
39147 DES G A GG Dilated Cardiomyopathy Taylor (2007)
39164 DES G A GG Dilated Cardiomyopathy Taylor (2007)
1821 SCN5A C T CC Brugada Syndrome Vatta (2002)
1840 SCN5A C T CC Brugada syndrome Priori (2002)
6887 RYR2 T G TT Catecholaminergic Polymorphic Ventricular Tachycardia Priori (2002)
6888 RYR2 T C TT Catecholaminergic Polymorphic Ventricular Tachycardia Bagattin (2004)
73825 CASQ2 C G CC Catecholaminergic Polymorphic Ventricular Tachycardia Lahat (2001)
100782 SCN5A I D II Long QT Syndrome Wang (1995), Bennett (1995), Rudy (1999)
6993 PKP2 A G AA Arrhythmogenic Right Ventricular Dysplasia Tintelen (2006)
4293 KCNH2 T C TT Long QT syndrome Chen (1999)
39187 DES G A -- Dilated Cardiomyopathy Taylor (2007)
2219 LMNA T C TT Dilated Cardiomyopathy Hershberger (2002)
Dante Labs
39171 DES T C TT Dilated Cardiomyopathy Horowitz (1994), Sjoberg (1999)
100785 CASQ2 I D II Catecholaminergic Polymorphic Ventricular Tachycardia Postma (2002)
1841 SCN5A C T CC Brugada syndrome Levy-Nissenbaum (2001)
1842 SCN5A C T CC Brugada syndrome Levy-Nissenbaum (2001)
1844 SCN5A T C TT Brugada syndrome Vatta (2002)
100792 SCN4B G A GG Long QT Syndrome Medeiros-Domingo (2007)
100795 SNTA1 G A GG Long QT Syndrome Ueda (2008)
6997 PKP2 A G AA Arrhythmogenic Right Ventricular Dysplasia Gerull (2004)
4296 KCNH2 G A GG Long QT syndrome Napolitano (2005)
4297 KCNH2 C G CC Long QT syndrome Chen (1999)
4298 KCNH2 G A GG Long QT syndrome Splawski (2000)
100786 CASQ2 C T CC Catecholaminergic Polymorphic Ventricular Tachycardia Hofman (2007), Postma (2002)
100759 PLN T G TT Dilated Cardiomyopathy Haghighi (2003)
1319 DMD A G -- Dilated Cardiomyopathy Feng (2002)
1846 SCN5A C T CC Brugada syndrome Smits (2002)
1848 SCN5A G A GG Brugada syndrome Makiyama (2005)
1854 SCN5A G A GG Brugada syndrome Priori (2002)
1811 SCN5A C T CC Long QT Syndrome Wang (1995)
1813 SCN5A T C TT Long QT Syndrome Wang (1995)
1838 SCN5A C A CC Long QT syndrome Millat (2006)
6998 PKP2 G T GG Arrhythmogenic Right Ventricular Dysplasia Tintelen (2006)
6999 PKP2 C T CC Arrhythmogenic Right Ventricular Dysplasia Tintelen (2006)
7000 PKP2 C G CC Arrhythmogenic Right Ventricular Dysplasia Gerull (2004)
Dante Labs
100787 CASQ2 G A GG Catecholaminergic Polymorphic Ventricular Tachycardia Postma (2002)
4300 KCNH2 A C AA Long QT syndrome Chen (1999)
4301 KCNH2 A G AA Long QT syndrome Jongbloed (2002)
1348 DMD C A C Dilated Cardiomyopathy Milasin (1996)
1855 SCN5A T C TT Brugada syndrome Priori (2002)
1859 SCN5A C T CC Brugada syndrome Niimura (2004)
7002 PKP2 G A GG Arrhythmogenic Right Ventricular Dysplasia Awad (2006)
1839 SCN5A G A GG Long QT syndrome Tester (2005)
1843 SCN5A C G CC Long QT syndrome Tester (2005)
1847 SCN5A C T CC Long QT syndrome Fodstad (2004)
4302 KCNH2 A G AA Long QT syndrome Larsen (2001)
4303 KCNH2 T G TT Long QT syndrome Jongbloed (2002)
4304 KCNH2 G C GG Long QT syndrome Millat (2006)
1404 DMD C A C Dilated Cardiomyopathy Feng (2002)
2106 MYBPC3 T G TT Dilated Cardiomyopathy Daehmlow (2002)
3045 ACTC C T CC Dilated Cardiomyopathy Olson (1998)
1862 SCN5A C G CC Brugada syndrome Yi (2003)
7003 PKP2 C T CC Arrhythmogenic Right Ventricular Dysplasia Gerull (2004)
7004 PKP2 T C TT Arrhythmogenic Right Ventricular Dysplasia Dalal (2006)
4305 KCNH2 C T CC Long QT syndrome Tester (2005)
Dante Labs
4306 KCNH2 T C TT Long QT syndrome Larsen (2001)
4307 KCNH2 G A GG Long QT syndrome Lupoglazoff (2001)
1849 SCN5A G C GG Long QT syndrome Fodstad (2004)
1853 SCN5A C T CC Long QT syndrome Millat (2006)
1856 SCN5A T C TT Long QT syndrome Fodstad (2004)
3047 ACTC T C TT Dilated Cardiomyopathy Olson (1998)
800868 TNNT2 G A GG Dilated Cardiomyopathy Li (2001)
1864 SCN5A A C AA Brugada syndrome Keller (2005)
1867 SCN5A C A CC Brugada syndrome Vatta (2002)
1868 SCN5A C T CC Brugada syndrome Makiyama (2005)
73690 DSC2 I D II Arrhythmogenic Right Ventricular Dysplasia Syrris (2006)
73692 DSC2 C T -- Arrhythmogenic Right Ventricular Dysplasia Beffagna (2007), Rampazzo (2008), De Bortoli (2010), Quarta (2011)
4308 KCNH2 A G AA Long QT syndrome Hayashi (2004)
4309 KCNH2 A C AA Long QT syndrome Moss (2002)
4310 KCNH2 C T CC Long QT syndrome Thu-Thuy (2004)
1869 SCN5A G A GG Brugada syndrome Smits (2002)
1870 SCN5A A T AA Brugada syndrome Smits (2002)
1872 SCN5A C T CC Brugada syndrome Rossenbacker (2004)
1857 SCN5A G T GG Long QT syndrome Tester (2005)
1964 SCN5A T C TT Long QT Syndrome Napolitano (2005)
3332 TTN C T CC Dilated Cardiomyopathy Itoh-Satoh (2002)
3334 TTN A G AA Dilated Cardiomyopathy Siu (1999), Gerull (2002)
73694 PKP2 C T CC Arrhythmogenic Right Ventricular Dysplasia Hofman (2007)
Dante Labs
100814 JUP I D GG Arrhythmogenic Right Ventricular Dysplasia McKoy (2000)
4311 KCNH2 G A -- Long QT syndrome Swan (1999)
4312 KCNH2 G T GG Long QT syndrome Tester (2005)
4313 KCNH2 C A CC Long QT syndrome Tester (2005)
3336 TTN G A GG Dilated Cardiomyopathy Itoh-Satoh (2002)
28461 LAMP2 C T C Dilated Cardiomyopathy Balmer (2005)
28464 LAMP2 G A G Dilated Cardiomyopathy Charron (2004)
1874 SCN5A T C TT Brugada syndrome Itoh (2005)
1881 SCN5A C A CC Brugada syndrome Baroudi (2004)
1883 SCN5A G A GG Brugada syndrome Smits (2002)
100819 JUP D I DD Arrhythmogenic Right Ventricular Dysplasia Asimaki (2007)
1873 SCN5A A T AA Long QT syndrome Tester (2005)
1876 SCN5A C T CC Long QT syndrome Priori (2000)
4316 KCNH2 G A GG Long QT syndrome Fodstad (2004)
28469 LAMP2 C T C Dilated Cardiomyopathy Danon (1981), Riggs (1983), Nishino (2000)
73817 MTTH G A G Dilated Cardiomyopathy Shin (2000), Mimaki (2003)
1884 SCN5A C T CC Brugada syndrome Lai (2005)
1886 SCN5A A T AA Brugada syndrome Priori (2000)
1897 SCN5A T G TT Brugada syndrome Priori (2002)
1877 SCN5A C T CC Long QT syndrome Napolitano (2005)
1878 SCN5A G T GG Long QT syndrome Napolitano (2005)
Dante Labs
1880 SCN5A C T CC Long QT syndrome Tester (2005)
4321 KCNH2 G T GG Long QT syndrome Millat (2006)
100680 MTTI T C T Dilated Cardiomyopathy Taniike (1992)
100691 TNNC1 C T CC Dilated Cardiomyopathy Mogensen (2004)
1901 SCN5A G T GG Brugada syndrome Priori (2002)
1902 SCN5A G A GG Brugada Syndrome Vatta (2002)
1888 SCN5A G C GG Long QT syndrome Napolitano (2005)
1892 SCN5A G A GG Long QT syndrome Wehrens (2003)
100698 CSRP3 A G -- Dilated Cardiomyopathy Knoll (2002), Geier (2008)
4323 KCNH2 G A GG Long QT syndrome Chevalier (2001)
1903 SCN5A C T CC Brugada syndrome Potet (2003)
1905 SCN5A C T CC Brugada syndrome Keller (2005)
1906 SCN5A G A GG Brugada syndrome Niimura (2004)
1894 SCN5A C G CC Long QT syndrome Millat (2006)
100702 CSRP3 T C TT Dilated Cardiomyopathy Mohapatra (2003)
100760 PLN I D II Dilated Cardiomyopathy Haghighi (2006)
1907 SCN5A A G AA Brugada syndrome Probst (2006)
Dante Labs
1909 SCN5A A G AA Brugada syndrome Priori (2002)
1910 SCN5A C A CC Brugada syndrome Smits (2002)
4326 KCNH2 G A GG Long QT syndrome Larsen (2001), Zhang (2008)
100772 ANKRD1 C G CC Dilated Cardiomyopathy Duboscq-Bidot (2009)
1900 SCN5A G T -- Long QT syndrome Van Langen (2003), Hofman (2007)
100773 ANKRD1 C T -- Dilated Cardiomyopathy Duboscq-Bidot (2009)
4328 KCNH2 A T AA Long QT syndrome Larsen (2001)
1908 SCN5A T C TT Long QT syndrome Berge (2005)
4331 KCNH2 A G AA Long QT syndrome Liu (2002)
4332 KCNH2 T C TT Long QT syndrome Tester (2005)
1918 SCN5A C T -- Brugada syndrome Frustaci (2005)
Dante Labs
1919 SCN5A C T CC Brugada syndrome Mohler (2004)
100774 ANKRD1 G A -- Dilated Cardiomyopathy Moulik (2009)
1921 SCN5A C T CC Long QT syndrome Splawski (2000)
1923 SCN5A G A GG Long QT syndrome Crotti (2007)
100775 ANKRD1 C A -- Dilated Cardiomyopathy Moulik (2009)
4334 KCNH2 C T CC Long QT syndrome Sharma (2004)
4335 KCNH2 G T GG Long QT syndrome Napolitano (2005)
1930 SCN5A C A CC Brugada syndrome Priori (2002)
1936 SCN5A C T CC Long QT syndrome Abriel (2001)
1937 SCN5A G A GG Long QT syndrome Wattanasirichaigoon (1999)
1939 SCN5A C T CC Long QT Syndrome Van Langen (2003), Hofman (2007)
100778 ANKRD1 C T CC Dilated Cardiomyopathy Moulik (2009)
4337 KCNH2 T G TT Long QT syndrome Tester (2005)
4338 KCNH2 G T GG Long QT syndrome Priori (1999)
4339 KCNH2 G A GG Long QT syndrome Moss (2002)
1931 SCN5A C G CC Brugada syndrome Priori (2002)
1933 SCN5A C T CC Brugada syndrome Shin (2004)
100779 ANKRD1 A C AA Dilated Cardiomyopathy Duboscq-Bidot (2009)
1940 SCN5A C G CC Long QT syndrome Wedekind (2001)
1941 SCN5A G A GG Long QT syndrome Schulze-Bahr (2004)
Dante Labs
1942 SCN5A G T GG Long QT syndrome Millat (2006)
100781 ANKRD1 T C -- Dilated Cardiomyopathy Arimura (2009)
4340 KCNH2 G A GG Long QT syndrome Priori (1999)
4341 KCNH2 C A -- Long QT syndrome Liu (2002)
4342 KCNH2 G T GG Long QT syndrome Jongbloed (2002)
1935 SCN5A A G -- Brugada syndrome Priori (2002)
1943 SCN5A A G AA Brugada syndrome Juang (2003)
1950 SCN5A A G AA Long QT syndrome Napolitano (2005)
4343 KCNH2 G A GG Long QT syndrome Laitinen (2000)
4345 KCNH2 C A CC Long QT syndrome Napolitano (2005)
100818 DSP I D II Dilated Cardiomyopathy Norgett (2000)
1125 DMD C A C Dilated Cardiomyopathy Feng (2002)
1945 SCN5A C G CC Brugada syndrome Smits (2002)
1946 SCN5A C G CC Brugada syndrome Smits (2002)
1951 SCN5A G C GG Long QT syndrome Splawski (2000)
1956 SCN5A G C GG Long QT syndrome Millat (2006)
1959 SCN5A C A CC Long QT syndrome Splawski (2000)
1156 DMD T C T Dilated Cardiomyopathy Ortiz-Lopez (1997)
1104 DMD A T -- Dilated Cardiomyopathy Feng (2002)
Dante Labs
4346 KCNH2 T C TT Long QT syndrome Curran (1995)
4347 KCNH2 G A GG Long QT syndrome Tanaka (1997)
4348 KCNH2 G A GG Long QT syndrome Inoue (2003)
1545 LDB3 A T AA Dilated Cardiomyopathy Vatta (2003)
2158 LMNA T G TT Dilated Cardiomyopathy Fatkin (1999)
3211 TNNT2 C T CC Dilated Cardiomyopathy Zeller (2006)
1947 SCN5A T C TT Brugada syndrome Deschenes (2000)
1953 SCN5A G A GG Brugada syndrome Rook (1999)
1960 SCN5A C G CC Long QT syndrome Priori (2000)
1963 SCN5A G A GG Long QT Syndrome Wattanasirichaigoon (1999)
1965 SCN5A C T CC Long QT Syndrome Piippo (2001)
4349 KCNH2 T C TT Long QT syndrome Lupoglazoff (2004)
4350 KCNH2 G C GG Long QT syndrome Itoh (1998)
4351 KCNH2 C T CC Long QT syndrome Fodstad (2004)
3217 TNNT2 G A GG Dilated Cardiomyopathy Mogensen (2004)
3220 TNNT2 C A CC Dilated Cardiomyopathy Stefanelli (2004)
3222 TNNT2 C A CC Dilated Cardiomyopathy Mogensen (2004)
1972 SCN5A C T CC Long QT syndrome Chang (2004)
1973 SCN5A T G TT Long QT syndrome Valdivia (2002)
1974 SCN5A T C TT Long QT syndrome Napolitano (2005)
1962 SCN5A G A GG Brugada syndrome Frustaci (2005)
1968 SCN5A T C TT Brugada syndrome Amin (2005)
Dante Labs
4352 KCNH2 C T CC Long QT syndrome Jongbloed (2002)
4354 KCNH2 C A CC Long QT syndrome Millat (2006)
1975 SCN5A T C TT Long QT syndrome Van Langen (2003), Hofman (2007)
1977 SCN5A C T CC Long QT syndrome Lupoglazoff (2001)
4355 KCNH2 C G CC Long QT syndrome Millat (2006)
4356 KCNH2 C T CC Long QT syndrome Splawski (2000)
1976 SCN5A T C TT Brugada syndrome Du (2005)
1980 SCN5A A T AA Brugada syndrome Hofman-Bang (2006)
1979 SCN5A C T CC Long QT syndrome Wei (1999), Wei (1999)
4358 KCNH2 G A GG Long QT syndrome Itoh (1998)
4359 KCNH2 A G AA Long QT syndrome Swan (1999)
4360 KCNH2 C G CC Long QT syndrome Jongbloed (1999)
1983 SCN5A A G AA Brugada syndrome Rivolta (2001)
1985 SCN5A G T GG Brugada syndrome Schulze-Bahr (2003)
1989 SCN5A G C -- Brugada syndrome Arbustini (2005)
1981 SCN5A C T CC Long QT syndrome Splawski (2000)
1982 SCN5A T C TT Long QT syndrome An (1998)
1986 SCN5A C T -- Long QT syndrome Millat (2006)
1992 SCN5A C T CC Brugada syndrome Rook (1999)
1994 SCN5A C A CC Brugada syndrome Priori (2002)
Dante Labs
4361 KCNH2 A T AA Long QT syndrome Liu (2002)
4362 KCNH2 C T CC Long QT syndrome Dausse (1996), Splawski (2000), Zhang (2008)
4363 KCNH2 C G CC Long QT syndrome Bellocq (2004)
1990 SCN5A T C TT Long QT syndrome Tester (2005)
1993 SCN5A C A CC Long QT syndrome Tester (2005)
1996 SCN5A A C AA Brugada syndrome Frustaci (2005)
1999 SCN5A C G CC Brugada syndrome Priori (2002)
4364 KCNH2 G A GG Long QT syndrome Curran (1995), Kagan (2000), Splawski (2000)
1995 SCN5A C T -- Long QT syndrome Tester (2005)
1997 SCN5A C T CC Long QT syndrome Crotti (2007)
1998 SCN5A G C -- Long QT syndrome Priori (2000)
4365 KCNH2 T G TT Long QT syndrome Sharma (2004)
4366 KCNH2 C T CC Long QT syndrome Berge (2005)
4367 KCNH2 A G AA Long QT syndrome St-Pierre (2000)
40579 CAV3 C G CC Hypertrophic Cardiomyopathy Hayashi (2004)
41255 SLC25A4 C A CC Hypertrophic Cardiomyopathy Palmieri (2005)
2526 KCNE2 C T CC Long QT syndrome Tester (2005)
2530 KCNE2 G A GG Long QT syndrome Isbrandt (2002)
2531 KCNE2 C T CC Long QT syndrome Millat (2006)
4370 KCNH2 C A CC Long QT syndrome Csanady (2005)
Dante Labs
2611 KCNQ1 C G CC Long QT syndrome Tester (2005)
2612 KCNQ1 C A CC Long QT syndrome Tester (2005)
100706 MYLK2 C T CC Hypertrophic Cardiomyopathy Davis (2001)
100707 MYLK2 C A -- Hypertrophic Cardiomyopathy Davis (2001)
4371 KCNH2 A G AA Long QT syndrome Swan (1999)
4372 KCNH2 T G TT Long QT syndrome Tester (2005)
2613 KCNQ1 A G AA Long QT syndrome Splawski (2000)
2614 KCNQ1 T C TT Long QT syndrome Jongbloed (2002)
2615 KCNQ1 A G AA Long QT syndrome Tester (2005)
4374 KCNH2 C G CC Long QT syndrome Larsen (2000)
2618 KCNQ1 G A GG Long QT syndrome Nemec (2003)
4378 KCNH2 G A GG Long QT syndrome Jongbloed (1999)
2205 LMNA G T GG Hypertrophic Cardiomyopathy Caux (2003), Chen (2003), Hegele (2003), Vigouroux (2003), Jacob (2005)
3316 TPM1 G A GG Hypertrophic Cardiomyopathy Van Driest (2003)
39188 DES G A GG Hypertrophic Cardiomyopathy Muntoni (2006)
2620 KCNQ1 C T CC Long QT syndrome Napolitano (2005)
2623 KCNQ1 A G AA Long QT syndrome Zareba (2003)
Dante Labs
4380 KCNH2 T C TT Long QT syndrome Crotti (2007)
4381 KCNH2 C T CC Long QT syndrome Swan (1999)
2625 KCNQ1 T A TT Long QT syndrome Gouas (2004)
2626 KCNQ1 T G TT Long QT syndrome Larsen (1999)
3313 TPM1 T C TT Hypertrophic Cardiomyopathy Van Driest (2003)
1449 MYL2 C T CC Hypertrophic Cardiomyopathy Flavigny (1998), Kabaeva (2002)
4385 KCNH2 T C TT Long QT syndrome Splawski (1998)
4386 KCNH2 G C GG Long QT syndrome Tester (2005)
2629 KCNQ1 C G CC Long QT syndrome Piippo (2001)
2630 KCNQ1 G A GG Long QT syndrome Zareba (2003)
4387 KCNH2 G A GG Long QT syndrome Moss (2002)
4388 KCNH2 C T CC Long QT syndrome Akimoto (1998)
4389 KCNH2 C T CC Long QT syndrome Jongbloed (1999), Splawski (2000)
2631 KCNQ1 T A TT Long QT syndrome Napolitano (2005)
2632 KCNQ1 C T CC Long QT syndrome Donger (1997)
1452 MYL2 A G AA Hypertrophic Cardiomyopathy Flavigny (1998)
1459 MYL2 C T CC Hypertrophic Cardiomyopathy Poetter (1996), Andersen (2001)
4390 KCNH2 T C TT Long QT syndrome Yamaguchi (2005)
Dante Labs
4391 KCNH2 C T CC Long QT syndrome Splawski (2000), Zhang (2008)
2634 KCNQ1 G C GG Long QT syndrome Napolitano (2005)
2635 KCNQ1 G A GG Long QT syndrome Tanaka (1997)
2636 KCNQ1 G C GG Long QT syndrome Wang (1996)
4393 KCNH2 A G AA Long QT syndrome Tanaka (1997)
4394 KCNH2 A C AA Long QT syndrome Schulze-Bahr (1995)
4395 KCNH2 C A CC Long QT syndrome Satler (1998)
2638 KCNQ1 A C AA Long QT syndrome Jongbloed (1999), Hofman (2007)
2639 KCNQ1 G A GG Long QT syndrome Wang (1996), Jongbloed (1999)
1460 MYL2 C T CC Hypertrophic Cardiomyopathy Poetter (1996), Kabaeva (2002)
1461 MYL2 G T GG Hypertrophic Cardiomyopathy Andersen (1999)
4396 KCNH2 G A GG Long QT syndrome Jongbloed (1999), Splawski (2000)
4397 KCNH2 G A GG Long QT syndrome Tanaka (1997), Splawski (2000), Zhang (2008)
4398 KCNH2 G C GG Long QT syndrome Splawski (2000)
2640 KCNQ1 G A GG Long QT syndrome Wang (1996)
2642 KCNQ1 T C TT Long QT syndrome Liu (2002)
4400 KCNH2 C T CC Long QT syndrome Larsen (2001)
Dante Labs
2645 KCNQ1 T C TT Long QT syndrome Yamaguchi (2003)
4404 KCNH2 A T AA Long QT syndrome Van Langen (2003)
2646 KCNQ1 G C GG Long QT syndrome Splawski (2000)
2648 KCNQ1 G C GG Long QT syndrome Fodstad (2004)
2649 KCNQ1 C G CC Long QT syndrome Napolitano (2005)
4406 KCNH2 C A CC Long QT syndrome Jahr (2000)
2650 KCNQ1 A T AA Long QT syndrome Tester (2005)
2652 KCNQ1 G A GG Long QT Syndrome Napolitano (2005)
1463 MYL2 T C TT Hypertrophic Cardiomyopathy Andersen (2001)
1465 MYL2 T C TT Hypertrophic Cardiomyopathy Richard (2003)
1476 MYL3 T C TT Hypertrophic Cardiomyopathy Richard (2003)
4408 KCNH2 G C GG Long QT syndrome Splawski (2000)
4409 KCNH2 C T CC Long QT syndrome G-to-A substitution at position (1882), Curran (1995), Splawski (2000)
2653 KCNQ1 C T CC Long QT syndrome Priori (1999)
2654 KCNQ1 C T CC Long QT syndrome Shimizu (2004)
2655 KCNQ1 C T CC Long QT syndrome Emeriaud (2002)
1478 MYL3 C T CC Hypertrophic Cardiomyopathy Olson (2002)
1479 MYL3 T C TT Hypertrophic Cardiomyopathy Poetter (1996)
Dante Labs
4411 KCNH2 T C TT Long QT syndrome Satler (1998), Zhang (2008)
4412 KCNH2 G T GG Long QT syndrome Yoshida (1999)
4413 KCNH2 T C TT Long QT syndrome Satler (1998)
2657 KCNQ1 T A TT Long QT syndrome Choi (2004)
4414 KCNH2 C G CC Long QT syndrome Tanaka (1997)
4415 KCNH2 A G AA Long QT syndrome Splawski (1998)
4416 KCNH2 A C AA Long QT syndrome Lehmann-Horn (1999)
2659 KCNQ1 G A GG Long QT syndrome Itoh (1998)
2660 KCNQ1 C T CC Long QT syndrome Franqueza (1999), Hofman (2007)
2663 KCNQ1 T C TT Long QT syndrome Franqueza (1999)
1480 MYL3 C T CC Hypertrophic Cardiomyopathy Poetter (1996)
1572 MYH7 C T CC Hypertrophic Cardiomyopathy Moolman-Smook (1999),
4418 KCNH2 T C TT Long QT syndrome Satler (1998)
4419 KCNH2 T C TT Long QT syndrome Lai (2005)
2664 KCNQ1 G C GG Long QT syndrome Fodstad (2004)
2665 KCNQ1 T A TT Long QT syndrome Itoh (1998)
2666 KCNQ1 T C TT Long QT syndrome Krahn (2000)
2667 KCNQ1 G A GG Long QT syndrome Wang (1996), Wedekind (2004)
2668 KCNQ1 G T GG Long QT syndrome Napolitano (2005)
4420 KCNH2 T A TT Long QT syndrome Tester (2005)
4421 KCNH2 C T CC Long QT syndrome Hayashi (2002)
Dante Labs
1579 MYH7 C T CC Hypertrophic Cardiomyopathy Rosenzweig (1991), Stravopodis (2003)
2669 KCNQ1 A G AA Long QT syndrome Napolitano (2005)
2671 KCNQ1 C T CC Long QT syndrome Kubota (2000)
4424 KCNH2 A C AA Long QT syndrome Tester (2005)
4425 KCNH2 G T GG Long QT syndrome Jongbloed (1999)
2673 KCNQ1 G T GG Long QT syndrome Choi (2004)
2675 KCNQ1 G A GG Long QT syndrome Donger (1997)
1657 MYH7 G A GG Hypertrophic Cardiomyopathy Watkins (1992), Stravopodis (2003)
2677 KCNQ1 T C TT Long QT syndrome Splawski (2000)
2678 KCNQ1 G A GG Long QT syndrome Romano-Ward syndrome (1925), Reardon (1993), Ackerman (1999), Murray (2002)
4429 KCNH2 T A TT Long QT syndrome Splawski (2000)
4430 KCNH2 A C AA Long QT syndrome Napolitano (2005)
4431 KCNH2 C A CC Long QT syndrome Berge (2005)
2681 KCNQ1 C T CC Long QT syndrome Wang (1996)
2682 KCNQ1 T G TT Long QT syndrome Tester (2005)
Dante Labs
4433 KCNH2 G T GG Long QT syndrome Paulussen (2000)
1679 MYH7 C T CC Hypertrophic Cardiomyopathy Watkins (1992)
2684 KCNQ1 T C TT Long QT syndrome Liu (2002)
2686 KCNQ1 C T CC Long QT syndrome Liu (2002)
4436 KCNH2 G A GG Long QT syndrome Millat (2006)
4437 KCNH2 C A CC Long QT syndrome Jongbloed (2002)
2687 KCNQ1 T C TT Long QT syndrome Choi (2004)
2689 KCNQ1 A G AA Long QT syndrome Priori (1999)
4438 KCNH2 C T CC Long QT syndrome Millat (2006)
4439 KCNH2 G C GG Long QT syndrome Kobori (2004)
1718 MYH7 C T CC Hypertrophic Cardiomyopathy Lascone (2001), Ware (2007)
1720 MYH7 T C TT Hypertrophic Cardiomyopathy Harada (1993)
2690 KCNQ1 G A GG Long QT syndrome Zareba (2003)
4441 KCNH2 G A GG Long QT syndrome Itoh (1998)
4443 KCNH2 G A GG Long QT syndrome Ko (2001)
Dante Labs
2693 KCNQ1 G A GG Long QT syndrome Van Langen (2003)
2694 KCNQ1 C T CC Long QT syndrome Choi (2004)
2695 KCNQ1 G A GG Long QT syndrome Priori (1998)
1742 MYH7 C T CC Hypertrophic Cardiomyopathy Tanjore (2006)
4445 KCNH2 C A CC Long QT syndrome Berge (2005)
4447 KCNH2 C G CC Long QT syndrome Tester (2005)
2698 KCNQ1 T C TT Long QT syndrome Tester (2005)
4449 KCNH2 A G AA Long QT syndrome Splawski (2000)
4450 KCNH2 A C AA Long QT syndrome Splawski (2000)
2699 KCNQ1 G A GG Long QT syndrome Chen (2003)
2701 KCNQ1 G T GG Long QT syndrome Liu (2002)
4452 KCNH2 G A GG Long QT syndrome Berthet (1999), Nakajima (2000)
2013 MYBPC3 C T CC Hypertrophic Cardiomyopathy Konno (2003)
2705 KCNQ1 C G CC Long QT syndrome Donger (1997)
2706 KCNQ1 C T CC Long QT syndrome Ko (2001)
Dante Labs
4454 KCNH2 C T CC Long QT syndrome Satler (1996), Splawski (2000)
2708 KCNQ1 C T CC Long QT syndrome Saarinen (1998)
2709 KCNQ1 C T CC Long QT syndrome Wang (1996)
2042 MYBPC3 C T CC Hypertrophic Cardiomyopathy Moolman-Smook (1998)
2043 MYBPC3 C T -- Hypertrophic Cardiomyopathy Cardim (2005)
4456 KCNH2 T A TT Long QT syndrome Napolitano (2005)
4458 KCNH2 T C TT Long QT syndrome Khositseth (2004)
2710 KCNQ1 C G CC Long QT syndrome Tanaka (1997)
2711 KCNQ1 G A GG Long QT syndrome Russell (1996), Hofman (2007)
2712 KCNQ1 G C GG Long QT syndrome Tester (2005)
4461 KCNH2 G A GG Long QT syndrome Van Langen (2003)
2713 KCNQ1 G T GG Long QT syndrome Chen (2003)
2714 KCNQ1 G A GG Long QT syndrome Choi (2004)
2715 KCNQ1 G C GG Long QT syndrome Shimizu (2004)
2045 MYBPC3 T C TT Hypertrophic Cardiomyopathy Niimura (2002)
2054 MYBPC3 C T CC Hypertrophic Cardiomyopathy Song (2005)
2059 MYBPC3 G A GG Hypertrophic Cardiomyopathy Erdmann (2001)
4464 KCNH2 G A GG Long QT syndrome Berge (2005)
Dante Labs
2716 KCNQ1 A C AA Long QT syndrome Donger (1997)
2717 KCNQ1 A G AA Long QT syndrome Splawski (1998)
4467 KCNH2 G A -- Long QT syndrome Splawski (2000)
2065 MYBPC3 G A GG Hypertrophic Cardiomyopathy Niimura (2002)
2075 MYBPC3 C G CC Hypertrophic Cardiomyopathy Carrier (1997)
2720 KCNQ1 G C GG Long QT syndrome Jongbloed (2002)
2721 KCNQ1 A G AA Long QT syndrome Zareba (2003)
4471 KCNH2 G A GG Long QT syndrome Millat (2006)
4473 KCNH2 C T CC Long QT syndrome Lupoglazoff (2001)
2722 KCNQ1 G A GG Long QT syndrome Wollnik (1997)
2723 KCNQ1 G C GG Long QT syndrome Splawski (1998)
2724 KCNQ1 C G CC Long QT syndrome Donger (1997)
2102 MYBPC3 C T CC Hypertrophic Cardiomyopathy Driest (2004)
2110 MYBPC3 C T CC Hypertrophic Cardiomyopathy Niimura (2002)
2115 MYBPC3 C T CC Hypertrophic Cardiomyopathy Erdmann (2001)
4474 KCNH2 C A -- Long QT syndrome Choe (2006)
Dante Labs
4476 KCNH2 C A CC Long QT syndrome Crotti (2007)
2726 KCNQ1 A G AA Long QT syndrome Nemec (2003)
2727 KCNQ1 G A GG Long QT syndrome Tanaka (1997)
4479 KCNH2 T A TT Long QT syndrome Khositseth (2004)
4480 KCNH2 C T CC Long QT syndrome Perkiomaki (2001), Kuperschmidt (2002)
2119 MYBPC3 C T CC Hypertrophic Cardiomyopathy Cardim (2005)
2123 MYBPC3 T C TT Hypertrophic Cardiomyopathy Bonne (1995)
4482 KCNH2 G T GG Long QT syndrome Napolitano (2005)
2733 KCNQ1 C T CC Long QT syndrome Zehelein (2004)
2734 KCNQ1 C A CC Long QT syndrome Shimizu (2004)
2125 MYBPC3 C T CC Hypertrophic Cardiomyopathy Jaaskelainen (2002)
2127 MYBPC3 C T CC Hypertrophic Cardiomyopathy Song (2005)
2129 MYBPC3 C T CC Hypertrophic Cardiomyopathy Lekanne Deprez (2006)
4485 KCNH2 G A -- Long QT syndrome Berge (2005)
Dante Labs
2737 KCNQ1 G C GG Long QT syndrome Berg (1997)
4488 KCNH2 C T CC Long QT syndrome Berthet (1999), Berthet (1999)
2739 KCNQ1 C A CC Long QT syndrome Kanters (2004)
2740 KCNQ1 C G CC Long QT syndrome Splawski (2000)
4490 KCNH2 C T CC Long QT syndrome Fodstad (2004)
2132 MYBPC3 C T CC Hypertrophic Cardiomyopathy Konno (2006)
2134 MYBPC3 T C TT Hypertrophic Cardiomyopathy Carrier (1997)
2149 MYBPC3 C T CC Hypertrophic Cardiomyopathy Carrier (1997)
2743 KCNQ1 T C TT Long QT syndrome Splawski (1998)
2744 KCNQ1 C T CC Long QT syndrome Splawski (2000)
4493 KCNH2 A G AA Long QT syndrome Zhang (2004)
2745 KCNQ1 A G AA Long QT syndrome Chen (2003)
2747 KCNQ1 A G AA Long QT Syndrome Tester (2005)
2824 PRKAG2 G T GG Hypertrophic Cardiomyopathy Arad (2002)
Dante Labs
2837 PRKAG2 C T CC Hypertrophic Cardiomyopathy Gollob (2001), Arad (2002)
4496 KCNH2 T A TT Long QT syndrome Napolitano (2005)
4497 KCNH2 C G CC Long QT syndrome Curran (1995)
2750 KCNQ1 G C GG Long QT syndrome Tanaka (1997)
6652 KCNJ2 A G AA Long QT syndrome Fodstad (2004)
6679 KCNJ2 C T CC Long QT syndrome Haruna (2007)
40582 CAV3 C T -- Long QT syndrome Vatta (2006)
2751 KCNQ1 G T GG Long QT syndrome Crotti (2007)
2838 PRKAG2 T C TT Hypertrophic Cardiomyopathy Blair (2001)
2840 PRKAG2 T A TT Hypertrophic Cardiomyopathy Arad (2002)
40583 CAV3 G A GG Long QT syndrome Vatta (2006)
40584 CAV3 T G TT Long QT syndrome Vatta (2006)
40587 CAV3 C G CC Long QT syndrome Vatta (2006)
2755 KCNQ1 T A TT Long QT syndrome Tester (2005)
2756 KCNQ1 G C GG Long QT syndrome Van Langen (2003)
Dante Labs
2761 KCNQ1 A T AA Long QT syndrome Napolitano (2005)
2762 KCNQ1 C G CC Long QT Syndrome Splawski (2000)
2843 PRKAG2 A G AA Hypertrophic Cardiomyopathy Laforet (2006)
3041 ACTC T C TT Hypertrophic Cardiomyopathy Mogensen (2004)
3042 ACTC G A GG Hypertrophic Cardiomyopathy Van Driest (2003)
2763 KCNQ1 G A GG Long QT syndrome Shimizu (2004)
2764 KCNQ1 C T CC Long QT syndrome Tester (2005)
2767 KCNQ1 T C TT Long QT syndrome Shimizu (2004)
2770 KCNQ1 C T CC Long QT Syndrome Priori (1998), Larsen (1999), Larsen (1999)
3043 ACTC C A CC Hypertrophic Cardiomyopathy Mogensen (1999)
3044 ACTC T G TT Hypertrophic Cardiomyopathy Mogensen (2004)
2771 KCNQ1 C T CC Long QT syndrome Van Langen (2003)
2772 KCNQ1 T G TT Long QT syndrome Zareba (2003)
2773 KCNQ1 C T CC Long QT syndrome Shimizu (2004)
3205 TNNT2 T G TT Hypertrophic Cardiomyopathy Driest (2003)
3213 TNNT2 A T AA Hypertrophic Cardiomyopathy Watkins (1995), Anan (1998)
2774 KCNQ1 G A GG Long QT syndrome Priori (1998), Larsen (1999), Larsen (1999)
2775 KCNQ1 A G AA Long QT syndrome Tester (2005)
2777 KCNQ1 C T CC Long QT syndrome Chouabe (2000)
2779 KCNQ1 C T CC Long QT syndrome Chouabe (1997)
Dante Labs
3223 TNNT2 C A CC Hypertrophic Cardiomyopathy Watkins (1995)
3233 TNNT2 C T CC Hypertrophic Cardiomyopathy Watkins (1993), Thierfelder (1994), Watkins (1996)
3254 TNNI3 G A GG Hypertrophic Cardiomyopathy Murphy (2004)
3282 TNNI3 G A GG Hypertrophic Cardiomyopathy Van Driest (2003)
2783 KCNQ1 G A GG Long QT syndrome Lupoglazoff (2004)
2784 KCNQ1 C T CC Long QT syndrome Donger (1997), Donger (1997)
2785 KCNQ1 A G AA Long QT syndrome Jongbloed (2002)
2786 KCNQ1 G T GG Long QT syndrome Van Langen (2003), Hofman (2007)
3331 TTN C A CC Hypertrophic Cardiomyopathy Satoh (1999)
4988 COX15 G A GG Hypertrophic Cardiomyopathy Kennaway (1990), Antonicka (2003), Oquendo (2004)
5004 COX15 G C GG Hypertrophic Cardiomyopathy Kennaway (1990), Antonicka (2003)
28465 LAMP2 C T C Hypertrophic Cardiomyopathy Arad (2005), Bertini (2005)
28466 LAMP2 A G A Hypertrophic Cardiomyopathy Musumeci (2005)

Silvestri (1993), Rutledge (1981), Shoffner (1990), Yoneda (1990), Berkovic (1991), Seibel
68616 MTTK A G A Hypertrophic Cardiomyopathy (1991), Shih (1991), Tanno (1991), Zeviani (1991), Noer (1991), Lertrit (1992), Shoffner
(1992), Penisson-Besnier (1992), Hammans (1993), Chomyn (1998)
71906 LAMP2 G T G Hypertrophic Cardiomyopathy Nadeau (2007)
73821 MTTG T C T Hypertrophic Cardiomyopathy Merante (1994)
74465 MYBPC3 I D II Hypertrophic Cardiomyopathy Dhandapany (2009), Waldmüller (2003)
78854 RAF1 G A GG Hypertrophic Cardiomyopathy Pandit (2007)
100678 MTTI T C T Hypertrophic Cardiomyopathy Taylor (2003)

Dante Labs
100679 MTTI T C T Hypertrophic Cardiomyopathy Merante (1996), Scaglia (2008)
100689 MYBPC3 D I DD Hypertrophic Cardiomyopathy Niimura (1998), Moolman (2000)
100690 PRKAG2 D I GG Hypertrophic Cardiomyopathy Blair (2001)
100692 TNNC1 A T AA Hypertrophic Cardiomyopathy Hoffmann (2001), Schmidtmann (2005)
100693 TNNC1 G A GG Hypertrophic Cardiomyopathy Landstrom (2008)
100694 TNNC1 C T CC Hypertrophic Cardiomyopathy Landstrom (2008)
100695 TNNC1 G T GG Hypertrophic Cardiomyopathy Landstrom (2008)
100699 CSRP3 A C AA Hypertrophic Cardiomyopathy Geier (2003), Geier (2008)
100700 CSRP3 G A GG Hypertrophic Cardiomyopathy Geier (2003)
100703 CSRP3 T G TT Hypertrophic Cardiomyopathy Geier (2008)
100709 TNNT2 I D II Hypertrophic Cardiomyopathy Kamisago (2000), Townsend (1994), Mogensen (2004)
100722 MYH6 C T CC Hypertrophic Cardiomyopathy Niimura (2002)
100726 MTTQ D I D Hypertrophic Cardiomyopathy Dey (2000), Graham (1997)
100730 MTND5 G A G Hypertrophic Cardiomyopathy Rutledge (1981), Naini (2005), Blok (2007)
100736 MTND6 T C T Hypertrophic Cardiomyopathy Rutledge (1981), Ugalde (2003), Solano (2003)
100744 MTTL1 C T C Hypertrophic Cardiomyopathy Silvestri (1994), Bruno (1999)
55111 RYR1 T G TT Malignant hyperthermia Monnier (2002)
55112 RYR1 C G CC Malignant hyperthermia Robinson (2006)
55113 RYR1 G T GG Malignant hyperthermia Robinson (2006)
55001 RYR1 A G AA Malignant Hyperthermia Robinson (2006)
55004 RYR1 A G AA Malignant Hyperthermia Monnier (2005)
55023 RYR1 A G -- Malignant Hyperthermia Dekomien (2005)
55114 RYR1 C T CC Malignant hyperthermia Galli (2006)
55115 RYR1 C A CC Malignant hyperthermia Robinson (2006)
Dante Labs
55116 RYR1 C T CC Malignant hyperthermia Robinson (2006)
55026 RYR1 A G AA Malignant Hyperthermia Yeh (2005)
55057 RYR1 A G AA Malignant Hyperthermia Marchant (2004)
55060 RYR1 A G AA Malignant Hyperthermia Shepherd (2004)
55117 RYR1 A T AA Malignant hyperthermia Sambuughin (2005)
55118 RYR1 C A CC Malignant hyperthermia Galli (2002)
55119 RYR1 T C TT Malignant hyperthermia Robinson (2006)

Otsu (1991), Fujii (1991), Harbitz (1992), Gillard (1991), Hall-Curran (1993), Otsu (1992), Otsu
54948 RYR1 C T CC Malignant Hyperthermia
(1994), Deufel (1995), Fagerlund (1997)
55120 RYR1 G C GG Malignant hyperthermia Galli (2002)
55121 RYR1 A T AA Malignant hyperthermia Robinson (2006)
55123 RYR1 C T CC Malignant hyperthermia Dekomien (2005)
54953 RYR1 C T CC Malignant Hyperthermia Manning (1998)
54955 RYR1 C T CC Malignant Hyperthermia Manning (1998), Wehner (2002)
54960 RYR1 C T CC Malignant Hyperthermia Guis (2004)
55130 RYR1 G A GG Malignant hyperthermia Robinson (2006)
55133 RYR1 T C TT Malignant hyperthermia Monnier (2005)
55135 RYR1 T G TT Malignant hyperthermia Sambuughin (2005)
55029 RYR1 C T CC Malignant Hyperthermia Tammaro (2003)
55032 RYR1 C T -- Malignant Hyperthermia Robinson (2006)
55062 RYR1 C T CC Malignant Hyperthermia McWilliams (2002)
55082 RYR1 C T CC Malignant Hyperthermia Robinson (2006)
Dante Labs
55137 RYR1 G A GG Malignant hyperthermia Monnier (2005)
55114 RYR1 C T CC Malignant Hyperthermia Galli (2006)
55149 RYR1 C T CC Malignant Hyperthermia Brown (2000)
55144 RYR1 A T AA Malignant hyperthermia Robinson (2006)
55182 RYR1 C T CC Malignant Hyperthermia Galli (2002)
102365 RYR1 C T CC Malignant Hyperthermia Quane (1993), O'Brien (1995), Tobin (2001)
33412 CPT2 C T CC Malignant Hyperthermia Vladutiu (1998, 2000)
55146 RYR1 T C TT Malignant hyperthermia Shepherd (2004)
55149 RYR1 C T CC Malignant hyperthermia Brown (2000)
55150 RYR1 C G CC Malignant hyperthermia Oyamada (2002)
55132 RYR1 A C AA Central Core Disease Davis (2003)
800831 RYR1 A G AA Central Core Disease Monnier (2000)
55055 RYR1 A G -- Harmless Variant Robinson (2006)

Harmless Variant (previously associated with Malignant
55021 RYR1 C T -- Gillard (1992)
hyperthermia)
Quane (1994), Fagerlund (1996), Alestrom (1995), Adeokun (1997), Monsieurs (1998),
54945 RYR1 G A GG Malignant Hyperthermia
Stewart (1998)
800829 RYR1 C T CC Central Core Disease Quane (1993), O'Brien (1995), Tobin (2001)
55104 RYR1 C T CC Central Core Disease Ferreiro (2002)
55174 RYR1 C A CC Central Core Disease Wu (2006)
Dante Labs
54956 RYR1 G A GG Central Core Disease Zhang (1993), Richter (1997), Phillips (1996)
54996 RYR1 G A GG Malignant Hyperthermia Galli (2006)
55006 RYR1 G A GG Malignant Hyperthermia Robinson (2006)
55010 RYR1 G T GG Malignant Hyperthermia Robinson (2006)
55153 RYR1 C T CC Malignant hyperthermia Haugen (2005)
55160 RYR1 A G AA Malignant hyperthermia Monnier (2005)
55046 RYR1 G A GG Malignant Hyperthermia Manning (1998), McCarthy (2000)
54992 RYR1 G A GG Central Core Disease Wu (2006)
55125 RYR1 G A GG Central Core Disease Wu (2006)
55142 RYR1 G A GG Central Core Disease Dekomien (2005)
55072 RYR1 G A GG Malignant Hyperthermia Keating (1994), Phillips (1996), Richter (1997)
55081 RYR1 G A GG Malignant Hyperthermia Manning (1998)
55161 RYR1 T C TT Malignant hyperthermia Sambuughin (2005)
55168 RYR1 T C TT Malignant Hyperthermia Lynch (1999)
55152 RYR1 G A GG Central Core Disease Jungbluth (2002)
55158 RYR1 G A GG Central Core Disease Tilgen (2001)
55094 RYR1 G A GG Malignant Hyperthermia Sambuughin (2005)
55102 RYR1 G A GG Malignant Hyperthermia Sambuughin (2005)
55176 RYR1 G T GG Central Core Disease Robinson (2006)
55179 RYR1 G A GG Central Core Disease Davis (2003)
Dante Labs
55107 RYR1 T C TT Central Core Disease Wu (2006)
55178 RYR1 C A CC Malignant hyperthermia Shepherd (2004)
55180 RYR1 G T GG Malignant hyperthermia Galli (2002)
55181 RYR1 T A TT Malignant hyperthermia Robinson (2006)
55109 RYR1 G A -- Malignant Hyperthermia Robinson (2006)
55137 RYR1 G A GG Malignant Hyperthermia Monnier (2005)
55122 RYR1 T C TT Central Core Disease Wu (2006)
800832 RYR1 T C TT Central Core Disease Lynch (1999), Avila (2001), Tilgen (2001)
55145 RYR1 G T GG Malignant Hyperthermia Robinson (2006)
55111 RYR1 T G TT Malignant Hyperthermia Monnier (2002)
55119 RYR1 T C TT Malignant Hyperthermia Robinson (2006)
55135 RYR1 T G TT Malignant Hyperthermia Sambuughin (2005)
102367 RYR1 T C TT Malignant Hyperthermia Lynch (1999), Avila (2001), Tilgen (2001)
36558 CACNA1S C T CC Malignant Hyperthermia Monnier (1997), Stewart (2001)
55064 RYR1 A G AA Malignant Hyperthermia Galli (2006)
70622 RYR1 I D II Malignant Hyperthermia Sambuughin (2001)
36558 CACNA1S C T CC Malignant Hyperthermia Monnier (1997), Stewart (2001)
54945 RYR1 G A GG Malignant Hyperthermia Quane (1994)
54948 RYR1 C T CC Malignant Hyperthermia Otsu (1991), Fujii (1991)
Dante Labs
54954 RYR1 G A GG Malignant Hyperthermia Manning (1998), Tegazzin (1994)
800827 RYR1 G A GG Central Core Disease Manning (1998), Tegazzin (1994)
54955 RYR1 C T CC Malignant Hyperthermia Manning (1998), Wehner (2002)
54960 RYR1 C T CC Malignant Hyperthermia Guis (2004)
54988 RYR1 T G TT Malignant Hyperthermia Robinson (2006)
54990 RYR1 C T CC Malignant Hyperthermia Tammaro (2003)
54991 RYR1 G A GG Malignant Hyperthermia Dekomien (2005)
54993 RYR1 C A CC Malignant Hyperthermia Galli (2006)
54995 RYR1 C A CC Malignant Hyperthermia Robinson (2006)
54998 RYR1 C T CC Malignant Hyperthermia Quane (1993)
55000 RYR1 G A GG Malignant Hyperthermia Monnier (2005)
55001 RYR1 A G AA Malignant Hyperthermia Robinson (2006)
55002 RYR1 G A GG Malignant Hyperthermia Rueffert (2002)
55003 RYR1 C T CC Malignant Hyperthermia Monnier (2005)
55007 RYR1 T A TT Malignant Hyperthermia Robinson (2006)
55008 RYR1 A T AA Malignant Hyperthermia Monnier (2005)
55009 RYR1 G A GG Malignant hyperthermia Gillard (1992)
55011 RYR1 C T CC Malignant hyperthermia Loke (2003)
Dante Labs
55012 RYR1 G C GG Malignant hyperthermia Monnier (2005)
55013 RYR1 G A GG Malignant hyperthermia Galli (2006)
55015 RYR1 C A CC Malignant hyperthermia Monnier (2005)
55017 RYR1 C T CC Malignant hyperthermia Davis (2002)
55018 RYR1 G A GG Malignant hyperthermia Rueffert (2002)
55021 RYR1 C T CC Malignant hyperthermia Gillard (1992)
55023 RYR1 A G -- Malignant hyperthermia Dekomien (2005)
55025 RYR1 A C AA Malignant hyperthermia Quane (1994)
55026 RYR1 A G AA Malignant hyperthermia Yeh (2005)
55028 RYR1 G A GG Malignant hyperthermia Brandt (1999)
55029 RYR1 C T CC Malignant hyperthermia Tammaro (2003)
55030 RYR1 C T CC Malignant hyperthermia Keating (1997)
55031 RYR1 G T GG Malignant hyperthermia Quane (1997)
55032 RYR1 C T -- Malignant hyperthermia Robinson (2006)
55034 RYR1 A G -- Malignant hyperthermia Robinson (2006)
55037 RYR1 T C TT Malignant hyperthermia Sambuughin (2005)
55039 RYR1 T G TT Malignant hyperthermia Robinson (2006)
55040 RYR1 C T -- Malignant hyperthermia Gillard (1992)
Dante Labs
55041 RYR1 T A TT Malignant hyperthermia Robinson (2006)
55042 RYR1 G T -- Malignant hyperthermia Gillard (1992)
55043 RYR1 G C GG Malignant hyperthermia Tammaro (2003)
55044 RYR1 C G CC Malignant hyperthermia Rueffert (2001)
55045 RYR1 G C GG Malignant hyperthermia Brandt (1999)
55046 RYR1 G A GG Malignant hyperthermia Manning (1998), McCarthy (2000)
55047 RYR1 A T AA Malignant hyperthermia Ruffert (2002)
55048 RYR1 C T CC Malignant hyperthermia Sambuughin (2005)
55049 RYR1 C G CC Malignant hyperthermia Brandt (1999)
55050 RYR1 G T GG Malignant hyperthermia Sambuughin (2005)
55051 RYR1 T A TT Malignant hyperthermia Galli (2006)
55052 RYR1 G A GG Malignant hyperthermia Sambuughin (2001)
55055 RYR1 A G AA Malignant hyperthermia Robinson (2006)
55057 RYR1 A G AA Malignant hyperthermia Marchant (2004)
55059 RYR1 G A GG Malignant hyperthermia Shepherd (2004)
55060 RYR1 A G AA Malignant hyperthermia Shepherd (2004)
55062 RYR1 C T CC Malignant hyperthermia McWilliams (2002)
55063 RYR1 C T CC Malignant hyperthermia Dekomien (2005)
55064 RYR1 A G AA Malignant hyperthermia Galli (2006)
55065 RYR1 T G TT Malignant hyperthermia Robinson (2006)
Dante Labs
55068 RYR1 G C GG Malignant hyperthermia Ruffert (2002)
55069 RYR1 G A GG Malignant hyperthermia Rueffert (2002)
55072 RYR1 G A GG Malignant hyperthermia Keating (1994)
55074 RYR1 C T CC Malignant hyperthermia Sei (2004)
55077 RYR1 C T CC Malignant hyperthermia Chamley (2000)
55078 RYR1 T C TT Malignant hyperthermia Rueffert (2002)
55079 RYR1 C T CC Malignant hyperthermia Brandt (1999)
55080 RYR1 G A GG Malignant hyperthermia Barone (1999)
55081 RYR1 G A GG Malignant hyperthermia Manning (1998)
55086 RYR1 T C TT Malignant hyperthermia Robinson (2006)
55088 RYR1 C G CC Malignant hyperthermia Galli (2006)
55092 RYR1 A G AA Malignant hyperthermia Robinson (2006)
55093 RYR1 G C GG Malignant hyperthermia Robinson (2006)
Dante Labs
55096 RYR1 C G -- Malignant Hyperthermia Guis (2004)
55098 RYR1 T A TT Malignant hyperthermia Galli (2006)
55106 RYR1 G C GG Malignant hyperthermia Robinson (2006)
55109 RYR1 G A -- Malignant hyperthermia Robinson (2006)

Haplotype:102096,
102502 TT-GG Severe Adverse Reactions to Abacavir
100620
102096 HLA-B T G TT Severe Adverse Reactions to Abacavir de Bakker (2006), Hugh (2004), Mallal (2002), Mallal (2008), Combo (2008)
100620 HSPA1L A G -- Abacavir Hypersensitivity Martin (2004)
800838 KIF6 G A AA Effectiveness of High Dose Atorvastatin vs Pravastatin Iakoubova (2008), Shiffman (2008)
70596 CYP2C8 I D II Risk of Adverse Reactions to Statins (Severe Muscle Pain) Ishikawa (2004)
102185 SLCO1B1 C T TT Risk of Adverse Reactions to Statins (Severe Muscle Pain) SEARCH Collaborative Group (2008)
102492 SLCO1B1 C T TT Risk of Adverse Reactions to Statins (Severe Muscle Pain) SEARCH Collaborative Group (2008), Voora (2009), Brunham (2011), Donnelly (2011)
800842 ITGB3 T C TT Aspirin Effectiveness Newman (1989), Weiss (1995), Weiss (1996)
Haplotype:54332,
102400 CYP2C19 GG-AA Plavix Effectiveness CYP2C19*3/*4 http://www.cap.org/apps/docs/cap_today/0610/LettersTable1.pdf
54333
Haplotype:54344,
102398 CYP2C19 AA-GG Plavix Effectiveness CYP2C19*2/*3 http://www.cap.org/apps/docs/cap_today/0610/LettersTable1.pdf
54332
Haplotype:54344,
102399 CYP2C19 AA-AA Plavix Effectiveness CYP2C19*2/*4 http://www.cap.org/apps/docs/cap_today/0610/LettersTable1.pdf
54333
Haplotype:54344,
54337, 54332, 54333, AA-GG-GG-AA-CC-TT-
102397 CYP2C19 Plavix Effectiveness CYP2C19*1/*1 http://www.cap.org/apps/docs/cap_today/0610/LettersTable1.pdf
54364, 54367, 54362, TT-TT
54361
Dante Labs
Haplotype:54362,
102402 CYP2C19 TT-GG Plavix Effectiveness CYP2C19*3/*8 http://www.cypalleles.ki.se/cyp2c19.htm
54332
Haplotype:54362,
102403 CYP2C19 TT-AA Plavix Effectiveness CYP2C19*1/*8 http://www.cypalleles.ki.se/cyp2c19.htm
54333
Haplotype:54362,
102401 CYP2C19 TT-AA Plavix Effectiveness CYP2C19*2/*8 http://www.cypalleles.ki.se/cyp2c19.htm
54344
54333 CYP2C19 A G AA Plavix Effectiveness CYP2C19*1/*4 http://www.cap.org/apps/docs/cap_today/0610/LettersTable1.pdf
54361 CYP2C19 C T TT Plavix Effectiveness CYP2C19*17/*17 http://www.cap.org/apps/docs/cap_today/0610/LettersTable1.pdf
54364 CYP2C19 C T CC Plavix Effectiveness CYP2C19*1/*5 Ibeanu , 1998
54332 CYP2C19 G A GG Plavix Effectiveness CYP2C19*1/*3 http://www.cap.org/apps/docs/cap_today/0610/LettersTable1.pdf
54337 CYP2C19 G C GG Plavix Effectiveness CYP2C19*1/*2B Ibeanu , 1998
54344 CYP2C19 G A AA Plavix Effectiveness CYP2C19*1/*2 http://www.cap.org/apps/docs/cap_today/0610/LettersTable1.pdf
54362 CYP2C19 T G TT Plavix Effectiveness CYP2C19*1/*8 Ibeanu , 1998
54367 CYP2C19 T A TT Plavix Effectiveness CYP2C19*1/*7 http://www.cap.org/apps/docs/cap_today/0610/LettersTable1.pdf
3419 LDLR A C AA Heart Attack FH AARHUS; Jensen (1997)

McPherson (2007), Shen (2007), Shen (2008), Abdullah (2008), Paynter (2009), Smith (2009),
51105 9p21 A G GG Heart Attack
Schaefer (2009), Ernst (2010), Xie (2011), Do (2011)
McPherson (2007), Shen (2007), Rao (2007), Zhou (2008), Abdullah (2008), Anderson (2008),
51108 9p21 A G AG Heart Attack
Schaefer (2009), Ernst (2010), Do (2011)
Sharpless (2006), McPherson (2007), Samani (2007), Consortium (2007), Helgadottir (2007),
51110 CDKN2A A G AA Heart Attack Shen (2007), Shen (2008), Zhou (2008), Wahlstrand (2009), Schaefer (2009), Ernst (2010), Lin
(2010), Wang (2011)
Samani (2007), Cunnington (2008), Cunnington (2009), Karvanen (2009), Coronary Artery
73715 2q36.3 A C CC Heart Attack
Disease Consortium (2009), Ghazouani (2010), Wang (2011)
73719 MIA3 A C CC Heart Attack Samani (2007), Kathiresan (2009), Samani (2009), Bressler (2010), Wang (2011)
73883 SNX19 A C AC Heart Attack Bare (2007), Morrison (2007), Shiffman (2008), Luke (2009)
Helgadottir (2007), Shen (2007), Helgadottir (2008), Shen (2008), Liu (2009), Lemmens
102495 CDKN2A A G GG Heart Attack (2009), Cluett (2009), Wahlstrand (2009), Silander (2009), Schaefer (2009), Ernst (2010),
Wang (2011), Koch (2011), Do (2011)
Samani (2007), Kathiresan (2008), Sandhu (2008), Willer (2008), Muendlein (2009), Karvanen
73849 PSRC1 A G AG Heart Attack (2009), Nakayama (2009), Coronary Artery Disease Consortium (2009), Kleber (2010), Ma
(2010), Musunuru (2010), Bressler (2010), Roder (2011), Wang (2011)
3427 LDLR C T CC Heart Attack FH ZAMBIA; Knight (1989), Soutar (1989), Soutar (1991), Rubinsztein (1992), Defesche (1992)
FH AFRIKANER 1, FH MAINE; Komuro (1987), Leitersdorf (1990), Kotze (1990), Kotze (1991),
3652 LDLR C G CC Heart Attack
Vergotine (2001)
Dante Labs
4026 LDLR C A CC Heart Attack FH LEBANESE; Khachadurian (1964), Lehrman (1987), Oppenheim (1991)
5337 LIPI C T -- Heart Attack Wen (2003)
5658 LPL C T CC Heart Attack Ma (1991), Normand (1992), Wood (1993)
73869 PSMA6 C G CC Heart Attack Ozaki (2006), Bennett (2008), Liu (2009), Alsmadi (2009), Freilinger (2009)
3410 LDLR G A GG Heart Attack FH AFRIKANER 2; Leitersdorf (1989), Kotze (1991), Schuster (1993), Defesche (1993)
3605 LDLR G A GG Heart Attack FH AFRIKANER 3; Graadt van Roggen (1991)
3618 LDLR G A GG Heart Attack FH GLASCO; Lee (1998)
4075 LDLR G A GG Heart Attack H TURKU; Koivisto (1995), Koivisto (2001)
4101 LDLR G A GG Heart Attack Takada (2002), Takada (2003), Sato (2004)
4126 LDLR G A GG Heart Attack FH ELVERUM; Leren (1994), Sun (1995), Feussner (1996)
5281 ABCG8 G A GG Heart Attack Bhattacharyya (1974), Berge (2000), Lu (2001)

Wilson (1983), Gagne (1989), Emi (1990), Wilson (1990), Paulweber (1991), Henderson
5649 LPL G A GG Heart Attack
(1992), Gilbert (2001)
5691 LPL G A GG Heart Attack Kobayashi (1993)
18899 F2 G A GG Heart Attack Poort (1996), Rosendaal (1997), Mesci (1997), Rosendaal (1998), Franco (1999), Ye (2006)
Wellcome Trust Case Control Consortium (2007), Samani (2007), Schunkert (2008), Hinohara
73709 9p21.3 G C GC Heart Attack (2008), Ye (2008), Cunnington (2009), Karvanen (2009), Peng (2009), Coronary Artery Disease
Consortium (2009), Cluett (2009), Schaefer (2009), Ernst (2010), Ye (2010)
Wellcome Trust Case Control Consortium (2007), Samani (2007), Cunnington (2009),
73712 6q25.1 G A GG Heart Attack
Coronary Artery Disease Consortium (2009), Ghazouani (2010)
3818 LDLR T A TT Heart Attack FH PORI; Koivisto (1995)
4135 LDLR T C TT Heart Attack FH ICELAND; Gudnason (1997)
73725 MADH3 T C TT Heart Attack Samani (2007), Karvanen (2009)
3147 APOA5 G A GG Heart Attack Marcais (2005)
4513 APOB C T CC Heart Attack Soria (1989), Vega (1986)
5121 APOA2 A G AA Heart Attack Yazaki (2003)
5208 LIPA A G AA Heart Attack Illingworth (1993)
Dante Labs
5245 ABCG5 G A GG Heart Attack Berge (2000), Lee (2001)
5246 ABCG5 C T CC Heart Attack Lee (2001)
5595 LPL A G -- Heart Attack Reymer (1995), Wright (2007)

Bertina (1994), Majerus (1994), Ridker (1995), Kemkes -Matthes (2004), Juul (2004), Ye
18882 F5 C T CC Heart Attack
(2006)
73605 LDLR I D II Heart Attack FH NORTH KARELIA, Koivisto (1992)
73722 10q11.21 C T TT Heart Attack Samani (2007), Coronary Artery Disease Consortium (2009), Bressler (2010), Roder (2011)
73875 KIF6 A G AA Heart Attack Samani (2007), Iakoubova (2008), Shiffman (2008), Cunnington (2008)
Newman (1989), Weiss (1995), Weiss (1996), Pastinen (1998), Goldschmidt-Clermont (1999),
800840 ITGB3 T C TT Heart Attack
Zhu (2000), Castelnuovo (2001), Wiwanitkit (2006), Kucharska -Newton (2011)
73886 VAMP8 T C TC Heart Attack Shiffman (2006), Morrison (2007), Bare (2007), Luke (2009)
102344 KIF6 A G AA Heart Attack Samani (2007), Iakoubova (2008), Shiffman (2008), Cunnington (2008), Iakoubova (2008)
Haplotype:54895, Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007), Lenzini (2008),
102463 CC-CC Warfarin (Coumadin®) Dosing
54800 Schwarz (2008), Schelleman (2008), Millican (2007)
102451 CC-CC Warfarin (Coumadin®) Dosing
102466 CC-CC-AA Warfarin (Coumadin®) Dosing
54835, 54836 Schwarz (2008), Schelleman (2008), Millican (2007)
102454 CC-AA Warfarin (Coumadin®) Dosing
Wadelius (2007), Krynetskiy (2007), Wadelius (2008), Caraco (2008), Sconce (2005),
54821 CYP2C9 A C AA Warfarin (Coumadin®) Dosing Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007), Lenzini (2008),
Schwarz (2008), Schelleman (2008), Millican (2007)
16663 F9 C T C Warfarin (Coumadin®) Dosing Oldenburg (1997)
Schwarz (2008), Caraco (2008), Sconce (2005), Anderson (2007), Gage (2008), N Engl J Med
54800 CYP2C9 C G CC Warfarin (Coumadin®) Dosing 2009;360:753-64, Lenzini (2007), Lenzini (2008), Schwarz (2008), Schelleman (2008), Millican
(2007)
King (2004), Wadelius (2007), Palkimas (2003), Wadelius (2006), Caraco (2008), Sconce
54835 CYP2C9 C T CC Warfarin (Coumadin®) Dosing (2005), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007), Lenzini
(2008), Schwarz (2008), Schelleman (2008), Millican (2007), US FDA Coum
Wadelius (2007), Krynetskiy (2007), Yuan, (2005), D'Andrea , (2005), Rieder (2005), Geisen,
54895 VKORC1 C T CC Warfarin (Coumadin®) Dosing (2005), Sconce (2005), Tham (2006), Cooper (2008), Wang (2008), Wadelius (2009),
Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007), Lenzin
Li (2006), Wadelius (2007), Wadelius (2008), Rieder (2005), Wadelius (2009), Anderson
54898 VKORC1 C T TT Warfarin (Coumadin®) Dosing (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007), Lenzini (2008), Schwarz
(2008), Schelleman (2008), Millican (2007)
Dante Labs
Li (2006), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753 -64, Lenzini (2007),
54909 VKORC1 C G CC Warfarin (Coumadin®) Dosing
Lenzini (2008), Schwarz (2008), Schelleman (2008), Millican (2007)
Caldwell (2008), Borgiani (2009), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753 -
102445 CYP4F2 C T CC Warfarin (Coumadin®) Dosing
64, Lenzini (2007), Lenzini (2008), Schwarz (2008), Schelleman (2008), Millican (2007)
Rieder (2007), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007),
102446 GGCX C G CC Warfarin (Coumadin®) Dosing
Sullivan-Klose (1996), Steward (1997), Wang (2008) , Caraco (2008), Sconce (2005), Anderson
54836 CYP2C9 A C AA Warfarin (Coumadin®) Dosing (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007), Lenzini (2008), Schwarz
(2008), Schelleman (2008), Millican (2007), US FDA Coumadin Drug Label
16662 F9 G A G Warfarin (Coumadin®) Dosing Chu (1996)
D'Andrea (2005), Rieder (2007), Wadelius (2007), Wadelius (2005), Krynetskiy (2007), Yuan
54896 VKORC1 G A AA Warfarin (Coumadin®) Dosing (2005), Borgiani (2007), Rieder (2005), Wadelius (2009), Anderson (2007), Gage (2008), N
Engl J Med 2009;360:753-64, Lenzini (2007), Lenzini (2008), Schwarz (2008),
Chrn (2006), Wang (2008), Caraco (2008), Sconce (2005), Anderson (2007), Gage (2008), N
70604 CYP2C9 G C GG Warfarin (Coumadin®) Dosing Engl J Med 2009;360:753-64, Lenzini (2007), Lenzini (2008), Schwarz (2008), Schelleman
(2008), Millican (2007)
Rost (2004), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007),
54901 VKORC1 T C TT Warfarin (Coumadin®) Dosing
54902 VKORC1 A G AA Warfarin (Coumadin®) Dosing
54903 VKORC1 C A CC Warfarin (Coumadin®) Dosing
Rost (2004), Krynetskiy (2007), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753 -
54908 VKORC1 A C AA Warfarin (Coumadin®) Dosing
64, Lenzini (2007), Lenzini (2008), Schwarz (2008), Schelleman (2008), Millican (2007)
Susceptibility to Postanesthetic Apnea with Succinylcholine,
55308 BCHE C A CC La Du (1990), La Du (1991), Nogueira (1992)
Mivacurium, and Suxamethonium due to BCHE Gene
55310 BCHE G A GG Harris (1961), La Du (1990), La Du (1991), Nogueira (1992)
Bodin (2005), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007),
54910 VKORC1 C A CC Warfarin (Coumadin®) Dosing
Harrington (2005), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753 -64, Lenzini
54911 VKORC1 C T CC Warfarin (Coumadin®) Dosing
(2007), Lenzini (2008), Schwarz (2008), Schelleman (2008), Millican (2007)
55312 BCHE T C TT Kalow (1957), Kalow (1959), Kalow (1962)m McGuire (1989), La Du (1991)
55313 BCHE C T CC Rubinstein (1978), Evans (1984), Whittaker (1988), Bartels (1992)
Yuan (2005), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007),
Wadelius (2007), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753 -64, Lenzini
(2007), Lenzini (2008), Schwarz (2008), Schelleman (2008), Millican (2007)
55335 BCHE T C TT Hidaka (1997)
55348 BCHE A G AA Manoharan (2006)
Dante Labs
55350 BCHE A T AA Sudo (1997)
55354 BCHE G T GG Hidaka (1997)
Mercaptopurine and Azathioprine Dosing and Toxicity due to
55207 TPMT C G CC Evans (1991), Krynetski (1995), Tai (1996), Tai (1997), Ameyaw (1999)
TPMT
55357 BCHE C A CC Levano (2005)
55361 BCHE C T CC Yen (2003)
55365 BCHE T A TT Garry (1976), Evans (1984), Bartels (1992)
55208 TPMT T C TT Evans (1991), Krynetski (1995), Tai (1996), Tai (1997), Ameyaw (1999)
TPMT
55215 TPMT T C TT Lindqvist (2004)
TPMT
55217 TPMT A G AA Otterness (1997)
TPMT
55219 TPMT C A CC Otterness (1997)
TPMT
55369 BCHE A C AA Primo-Parmo (1996)
55374 ALAD C G CC Susceptibility to Lead Poisoning Wetmur (1991)
55225 TPMT T A TT Otterness (1997)
TPMT
55229 TPMT C T CC Otterness (1998)
TPMT
Kidd (1999), Margaglione (2000), Tate (2005), Arnett (2007), Borgiani (2007), Wadelius
54837 CYP2C9 A C AA Phenytoin Metabolism & Dosing
(2008)
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5-FU
55424 DPYD C A CC Vreken (1997), Vreken (1998), van Kuilenburg (1999)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55429 DPYD T C TC Gross (2003)
Toxicity
55432 DPYD G A GG Vreken (1997)
Toxicity
55435 DPYD G A AA Vreken (1997)
Toxicity
55444 DPYD G A GG van Kuilenburg (2003)
Toxicity
Toxicity
55446 DPYD T G TT Ezzeldin (2005)
Toxicity
Dante Labs
55449 DPYD T G TT van Kuilenburg (2000)
Toxicity
55450 DPYD T C TT van Kuilenburg (2002)
Toxicity
55451 DPYD T G TT van Kuilenburg (2005)
Toxicity
55452 DPYD T C TT Gross (2003)
Toxicity
55453 DPYD C A CC Kouwaki (1998)
Toxicity
Toxicity
55456 DPYD C A CC Kouwaki (1998)
Toxicity
Toxicity
55458 DPYD C T CC van Kuilenburg (2005)
Toxicity
55459 DPYD A C AA Collie-Duguid (2000)
Toxicity
Kidd (1999), Margaglione (2000), Tate (2005), Arnett (2007), Borgiani (2007), Wadelius
102181 CYP2C9 A C AA Sulfonylureas Adverse Reactions
(2008)
55214 TPMT C T CC Hon (1999)
TPMT
55460 DPYD C A CC Salgueiro (2004)
Toxicity
55462 DPYD C A CC Ezzeldin (2003)
Toxicity
Toxicity
55466 DPYD C A CC van Kuilenburg (2005)
Toxicity
55468 DPYD C T CC van Gennip (1994), Meinsma (1995), Wei (1996)
Toxicity
800872 MTHFR A C AA Adverse Reaction to Nitrous Oxide Kluijtmans (1998), Erbe (2003), Selzer (2003), Kalikiri (2004), Shay (2007)
800873 MTHFR G A GG Adverse Reaction to Nitrous Oxide Kluijtmans (1998), Erbe (2003), Selzer (2003), Kalikiri (2004), Shay (2007)
800835 MTHFR C T CC Adverse Reaction to Nitrous Oxide Beckman (1987), Selzer (2003), Erbe (2003), Selzer (2003), Kalikiri (2004), Shay (2007)
800870 MTHFR G A GG Adverse Reaction to Nitrous Oxide Frosst (1995), McAndrew (1996), Erbe (2003), Selzer (2003), Kalikiri (2004), Shay (2007)
800871 MTHFR T G TT Adverse Reaction to Nitrous Oxide Put (1998)

Ribeiro (2001), DiGiammarino (2002), Latronico (2001), Longui (2004), Figueiredo (2006),
47472 TP53 C T CC Adrenocortical Carcinoma
Pinto (2005)
Dante Labs
47055 ATM A C -- Breast Cancer with Radiation Exposure Atencio (2001), Cardis (2007)
47076 ATM A G AA Breast Cancer with Radiation Exposure Sommer (2003), Cardis (2007)
47083 ATM A G AA Breast Cancer with Radiation Exposure Atencio (2001), Cardis (2007)
801440 BRCA1 G A GG Breast Cancer with Radiation Exposure Mote (2004)
801441 BRCA1 C A CC Breast Cancer with Radiation Exposure Khoo (2000)
801442 BRCA1 A G AA Breast Cancer with Radiation Exposure Katagiri (1998)
47109 ATM A G -- Breast Cancer with Radiation Exposure Atencio (2001), Cardis (2007)
801443 BRCA1 G A GG Breast Cancer with Radiation Exposure Llort (2002)
801444 BRCA1 C A CC Breast Cancer with Radiation Exposure Serova (1996)
801445 BRCA1 T A TT Breast Cancer with Radiation Exposure Chen (2003)
801304 BRCA1 I D II Breast Cancer with Radiation Exposure
801305 BRCA1 D I DD Breast Cancer with Radiation Exposure Simard (1994), Gayther (1997), Gorski (2000), Rios (2001)
801306 BRCA1 I D II Breast Cancer with Radiation Exposure Simard (1994)
801845 BRCA2 T G TT Breast Cancer with Radiation Exposure Sermijn (2004)
801846 BRCA2 G A GG Breast Cancer with Radiation Exposure Lubinski (2004)
801847 BRCA2 C A CC Breast Cancer with Radiation Exposure Lubinski (2004)
47166 ATM A G AA Breast Cancer with Radiation Exposure Teraoka (2001), Cardis (2007)
47173 ATM A G AA Breast Cancer with Radiation Exposure Teraoka (2001), Cardis (2007)
47208 ATM A G AA Breast Cancer with Radiation Exposure Maillet (2002), Cardis (2007)
801446 BRCA1 A T AA Breast Cancer with Radiation Exposure Tomka (2001)
801447 BRCA1 A C AA Breast Cancer with Radiation Exposure Theodor (1998)
801448 BRCA1 G T GG Breast Cancer with Radiation Exposure Scott (2003)
Dante Labs
801848 BRCA2 C T CC Breast Cancer with Radiation Exposure Rashid (2006)
801849 BRCA2 C T CC Breast Cancer with Radiation Exposure Weitzel (2005)
801850 BRCA2 C T CC Breast Cancer with Radiation Exposure Infante (2006)
801309 BRCA1 D I DD Breast Cancer with Radiation Exposure Johannsson (1996), Bergman (2001)
Harmless variant (previously associated with Breast Cancer with
46953 ATM C T -- Sommer (2002), Cardis (2007)
Radiation Exposure)
46970 ATM C T -- Atencio (2001), Cardis (2007)
Radiation Exposure)
47077 ATM C T CC Breast Cancer with Radiation Exposure Teraoka (2001), Cardis (2007)
801449 BRCA1 G A GG Breast Cancer with Radiation Exposure Katagiri (1998)
801451 BRCA1 C A CC Breast Cancer with Radiation Exposure Wagner (1999)
801851 BRCA2 C A CC Breast Cancer with Radiation Exposure Maillet (2006)
801852 BRCA2 T A TT Breast Cancer with Radiation Exposure Rashid (2006)
801853 BRCA2 A T AA Breast Cancer with Radiation Exposure Foretova (2004)
801702 BRCA2 T G -- Breast Cancer with Radiation Exposure Ganguly (1998)
801703 BRCA2 G T GG Breast Cancer with Radiation Exposure Haraldsson (1998)

801704 BRCA2 G A -- Sinilnikova (1999)
Radiation Exposure)
801310 BRCA1 A C AA Breast Cancer with Radiation Exposure
801311 BRCA1 G A -- Barker (1996)
Radiation Exposure)
801854 BRCA2 T G TT Breast Cancer with Radiation Exposure Lubinski (2004)
801855 BRCA2 C G CC Breast Cancer with Radiation Exposure Matsuda (2002)
801856 BRCA2 C T CC Breast Cancer with Radiation Exposure Meindl (2002)
47121 ATM C T CC Breast Cancer with Radiation Exposure Atencio (2001), Cardis (2007)
Dante Labs
47138 ATM C T CC Breast Cancer with Radiation Exposure Sommer (2003), Cardis (2007)
Harmless variant (previously associated with Breast Cancer with Castellvi-Bel (1999), Stredrick (2006), Maillet (2002), Buchholz (2004), Cox (2007), Cardis
102383 ATM C G --
Radiation Exposure) (2007)
801452 BRCA1 A T AA Breast Cancer with Radiation Exposure Gayther (1995)
801453 BRCA1 A C AA Breast Cancer with Radiation Exposure Wagner (1998)
801454 BRCA1 G A GG Breast Cancer with Radiation Exposure Gao (2000)
801312 BRCA1 G A -- Breast Cancer with Radiation Exposure
801313 BRCA1 A C AA Breast Cancer with Radiation Exposure
801314 BRCA1 C A CC Breast Cancer with Radiation Exposure Aziz (2001), Easton (2007)
801857 BRCA2 C T CC Breast Cancer with Radiation Exposure Maillet (2006)
801858 BRCA2 T A TT Breast Cancer with Radiation Exposure Santarosa (1999)
801859 BRCA2 T G TT Breast Cancer with Radiation Exposure Lubinski (2004)
47025 ATM G A GG Breast Cancer with Radiation Exposure Bernstein (2003), Cardis (2007)
47071 ATM G A GG Breast Cancer with Radiation Exposure Sommer (2002), Cardis (2007)
47149 ATM G A GG Breast Cancer with Radiation Exposure Izatt (1999), Cardis (2007)
801456 BRCA1 A C AA Breast Cancer with Radiation Exposure Scott (2003)
801457 BRCA1 G C GG Breast Cancer with Radiation Exposure Plummer (1995)

801315 BRCA1 T C -- Schoumacher (2001)
Radiation Exposure)
801316 BRCA1 G T GG Breast Cancer with Radiation Exposure Futreal (1994)
801317 BRCA1 A C AA Breast Cancer with Radiation Exposure Castilla (1994)
801860 BRCA2 G T GG Breast Cancer with Radiation Exposure Hamann (2002)
801861 BRCA2 T C -- Breast Cancer with Radiation Exposure Weber (2004)
801862 BRCA2 A C -- Breast Cancer with Radiation Exposure Hadjisavvas (2004)
47239 ATM G T -- Breast Cancer with Radiation Exposure Teraoka (2001), Cardis (2007)
Dante Labs
47048 ATM T C -- Breast Cancer with Radiation Exposure Sommer (2002), Cardis (2007)
47049 ATM T G TT Breast Cancer with Radiation Exposure Sommer (2002), Cardis (2007)
801318 BRCA1 G A GG Breast Cancer with Radiation Exposure Friedman (1994)
801319 BRCA1 C A CC Breast Cancer with Radiation Exposure Castilla (1994)
801459 BRCA1 G A GG Breast Cancer with Radiation Exposure Wagner (1999)
801460 BRCA1 G A GG Breast Cancer with Radiation Exposure Emi (1998)
801863 BRCA2 G T GG Breast Cancer with Radiation Exposure Lubinski (2004)
801864 BRCA2 G A -- Breast Cancer with Radiation Exposure Hadjisavvas (2004)
801865 BRCA2 C G CC Breast Cancer with Radiation Exposure Gomez-Garcia (2005)
801320 BRCA1 G C GG Breast Cancer with Radiation Exposure Castilla (1994)
801321 BRCA1 C A CC Breast Cancer with Radiation Exposure Berchuck (1998), Easton (2007)
801866 BRCA2 C A CC Breast Cancer with Radiation Exposure De Benedetti (1998), Reid (2005)
801867 BRCA2 C T CC Breast Cancer with Radiation Exposure Hadjisavvas (2004)
801461 BRCA1 A T AA Breast Cancer with Radiation Exposure Ahn (2007)
801462 BRCA1 G A GG Breast Cancer with Radiation Exposure Tartaglini (1998)
801463 BRCA1 C T -- Breast Cancer with Radiation Exposure Salazar (2006)
801322 BRCA1 G C GG Breast Cancer with Radiation Exposure Friedman (1994)

801323 BRCA1 G A -- Barker (1996)
Radiation Exposure)
801868 BRCA2 G T GG Breast Cancer with Radiation Exposure Rashid (2006)
801869 BRCA2 T A TT Breast Cancer with Radiation Exposure Hadjisavvas (2003)
801870 BRCA2 C A CC Breast Cancer with Radiation Exposure Meindl (2002)
801464 BRCA1 C G CC Breast Cancer with Radiation Exposure Xiaoman (1999)
801465 BRCA1 C A CC Breast Cancer with Radiation Exposure Peelen (1997)
Dante Labs
801466 BRCA1 C G -- Breast Cancer with Radiation Exposure Durocher (1996)
47052 ATM T C -- Breast Cancer with Radiation Exposure Doerk (2001), Fletcher (2010), Cardis (2007)
47080 ATM T G -- Breast Cancer with Radiation Exposure Maillet (2002), Cardis (2007)
801324 BRCA1 A C AA Breast Cancer with Radiation Exposure Gorski (2000)

801325 BRCA1 T C -- Zuhlke (2004)
Radiation Exposure)
801871 BRCA2 C T CC Breast Cancer with Radiation Exposure Phelan (2002)
801872 BRCA2 A T AA Breast Cancer with Radiation Exposure Meindl (2002)
801873 BRCA2 G T GG Breast Cancer with Radiation Exposure Santarosa (1999)
801467 BRCA1 C A CC Breast Cancer with Radiation Exposure Peelen (1997)
801468 BRCA1 G T GG Breast Cancer with Radiation Exposure Vehmanen (1997)
801469 BRCA1 G A GG Breast Cancer with Radiation Exposure Gallardo (2004)

801705 BRCA2 A G -- Sanjose (2003)
Radiation Exposure)
801706 BRCA2 A C -- Katagari (1996)
Radiation Exposure)
801874 BRCA2 A G -- Breast Cancer with Radiation Exposure Fries (2002)
801875 BRCA2 G A -- Breast Cancer with Radiation Exposure Chenevix-Trench (2006)
801876 BRCA2 A T AA Breast Cancer with Radiation Exposure Marroni (2004)
801326 BRCA1 T C TT Breast Cancer with Radiation Exposure Vega (2002), Diez (2003)
801470 BRCA1 G A GG Breast Cancer with Radiation Exposure Couch (1996)
801471 BRCA1 T C TT Breast Cancer with Radiation Exposure Salazar (2006)
801472 BRCA1 G A GG Breast Cancer with Radiation Exposure Shattuck-Eidens (1995)
801877 BRCA2 C G CC Breast Cancer with Radiation Exposure Hadjisavvas (2004)
801878 BRCA2 C T -- Breast Cancer with Radiation Exposure Gao (2001)
801879 BRCA2 C T CC Breast Cancer with Radiation Exposure Fries (2002)
801327 BRCA1 C T CC Breast Cancer with Radiation Exposure Abkevich (2004)
Dante Labs
801328 BRCA1 T C TT Breast Cancer with Radiation Exposure Benedetti (1996)
801329 BRCA1 G A GG Breast Cancer with Radiation Exposure Zuhlke (2004)
801473 BRCA1 T C TT Breast Cancer with Radiation Exposure Arnold (1999)
801474 BRCA1 G A GG Breast Cancer with Radiation Exposure Miki (1994)
801475 BRCA1 A T AA Breast Cancer with Radiation Exposure Sakayori (2003)
801880 BRCA2 G A GG Breast Cancer with Radiation Exposure Meindl (2002)
801881 BRCA2 T A TT Breast Cancer with Radiation Exposure Lubinski (2004)
801882 BRCA2 G C GG Breast Cancer with Radiation Exposure Chenevix-Trench (2006)
801330 BRCA1 C A CC Breast Cancer with Radiation Exposure Katagiri (1998)
801331 BRCA1 T C -- Breast Cancer with Radiation Exposure Zuhlke (2004)
801332 BRCA1 C T CC Breast Cancer with Radiation Exposure Katagiri (1998)
801707 BRCA2 A G AA Breast Cancer with Radiation Exposure Scott (2002)
801708 BRCA2 A G AA Breast Cancer with Radiation Exposure Baudi (2003)
801709 BRCA2 A G AA Breast Cancer with Radiation Exposure Jakubowska (2003)
801476 BRCA1 G A GG Breast Cancer with Radiation Exposure Langston (1996)
801477 BRCA1 G A GG Breast Cancer with Radiation Exposure Cilotti (2002)
801478 BRCA1 G A GG Breast Cancer with Radiation Exposure Dong (1998)
801883 BRCA2 A T AA Breast Cancer with Radiation Exposure Chenevix-Trench (2006)
801884 BRCA2 A T AA Breast Cancer with Radiation Exposure Maillet (2006)
801885 BRCA2 C A CC Breast Cancer with Radiation Exposure Sinilnikova (2006)
801479 BRCA1 G T GG Breast Cancer with Radiation Exposure Cortesi (2002)
801480 BRCA1 G A GG Breast Cancer with Radiation Exposure Rostagno (2003)
801481 BRCA1 C A CC Breast Cancer with Radiation Exposure Eerola (2005)
801333 BRCA1 T C -- Breast Cancer with Radiation Exposure Zuhlke (2004)
Dante Labs
801334 BRCA1 T C TT Breast Cancer with Radiation Exposure Li (2002)
801335 BRCA1 C T -- Breast Cancer with Radiation Exposure Zuhlke (2004)
801886 BRCA2 C T CC Breast Cancer with Radiation Exposure Lubinski (2004)
801888 BRCA2 T C TT Breast Cancer with Radiation Exposure Kanaan (2003)
801710 BRCA2 C A CC Breast Cancer with Radiation Exposure Howlett (2002)
801711 BRCA2 C T CC Breast Cancer with Radiation Exposure Offit (2003), Alter (2007)
801712 BRCA2 G T -- Schoumacher (2001)
Radiation Exposure)
801482 BRCA1 G C GG Breast Cancer with Radiation Exposure NI consortium (2003)
801483 BRCA1 G T GG Breast Cancer with Radiation Exposure der Hout (2006)
801484 BRCA1 G A GG Breast Cancer with Radiation Exposure Ozcelik (2003)
801336 BRCA1 G A GG Breast Cancer with Radiation Exposure Castilla (1994)
801337 BRCA1 C A CC Breast Cancer with Radiation Exposure Aziz (2001), Easton (2007)
801338 BRCA1 C T CC Breast Cancer with Radiation Exposure Osorio (2000), Easton (2007)
801889 BRCA2 C T CC Breast Cancer with Radiation Exposure Santarosa (1999)
801485 BRCA1 G A GG Breast Cancer with Radiation Exposure Tartaglini (1998)
801486 BRCA1 C A CC Breast Cancer with Radiation Exposure Futreal (1994)
801487 BRCA1 G A -- Breast Cancer with Radiation Exposure Durocher (1996)
801713 BRCA2 G T GG Breast Cancer with Radiation Exposure Haraldsson (1998)
801714 BRCA2 G T GG Breast Cancer with Radiation Exposure Hirsch (2004)
801715 BRCA2 G T GG Breast Cancer with Radiation Exposure Katagiri (1996)
801339 BRCA1 C A CC Breast Cancer with Radiation Exposure Abkevich (2004)
Dante Labs
801340 BRCA1 C A CC Breast Cancer with Radiation Exposure Choi (2004)
801341 BRCA1 C T CC Breast Cancer with Radiation Exposure Osorio (2000)
801892 BRCA2 C A CC Breast Cancer with Radiation Exposure Diez (2003)
801893 BRCA2 C T CC Breast Cancer with Radiation Exposure Sekine (2001)
801894 BRCA2 G T GG Breast Cancer with Radiation Exposure Hoya (2002)
801488 BRCA1 G C GG Breast Cancer with Radiation Exposure Serova (1996)
801489 BRCA1 A G -- Breast Cancer with Radiation Exposure Panguluri (1999)
801490 BRCA1 G A GG Breast Cancer with Radiation Exposure Laplace-Marieze (1997)
801342 BRCA1 C T CC Breast Cancer with Radiation Exposure Wagner (1999)
801343 BRCA1 C T CC Breast Cancer with Radiation Exposure Petrij-Bosch (1997)
801344 BRCA1 T C TT Breast Cancer with Radiation Exposure Peelen (1997), Easton (2007)
801716 BRCA2 G A GG Breast Cancer with Radiation Exposure Hahn (2003)
801717 BRCA2 G A GG Breast Cancer with Radiation Exposure Howlett (2002)
801718 BRCA2 G A GG Breast Cancer with Radiation Exposure Howlett (2002)
801895 BRCA2 C A CC Breast Cancer with Radiation Exposure Lubinski (2004)
801897 BRCA2 C G CC Breast Cancer with Radiation Exposure Naseem (2006)
801491 BRCA1 T C -- Breast Cancer with Radiation Exposure Fitzgerald (1996)
801492 BRCA1 T C -- Breast Cancer with Radiation Exposure Durocher (1996)
801493 BRCA1 C A CC Breast Cancer with Radiation Exposure Choi (2004)
801345 BRCA1 T C TT Breast Cancer with Radiation Exposure Hout (2006)

Simard (1994), Struewing (1995), Roa (1996), Bar-Sade (1997), Bar-Sade (1998), Bandera
(1998), Schorge (1998), Mew (2002), Buisson (2006), Oddoux (1996)
801347 BRCA1 D I DD Breast Cancer with Radiation Exposure Simard (1994), Gayther (1997), Gorski (2000), Rios (2001)
801898 BRCA2 A G AA Breast Cancer with Radiation Exposure Bonatti (2006)
Dante Labs
801899 BRCA2 G T GG Breast Cancer with Radiation Exposure Meindl (2002)
801900 BRCA2 G C GG Breast Cancer with Radiation Exposure NI consortium (2003)
801719 BRCA2 G A GG Breast Cancer with Radiation Exposure Popp (2003), Wagner (2004), Alter (2007)
801720 BRCA2 G A GG Breast Cancer with Radiation Exposure Hansen (2008)
801348 BRCA1 I D II Breast Cancer with Radiation Exposure Simard (1994)
801349 BRCA1 I D II Breast Cancer with Radiation Exposure Gayther (1997)
801494 BRCA1 C A CC Breast Cancer with Radiation Exposure Mazoyer (1998)
801495 BRCA1 A G AA Breast Cancer with Radiation Exposure Bergthorsson (2001)
801496 BRCA1 C G CC Breast Cancer with Radiation Exposure Scott (2003)

801721 BRCA2 G A -- Sinilnikova (1999)
Radiation Exposure)
801722 BRCA2 T C TT Breast Cancer with Radiation Exposure Hirsch (2004)
801901 BRCA2 G A GG Breast Cancer with Radiation Exposure Bonatti (2006)
801902 BRCA2 G T GG Breast Cancer with Radiation Exposure Meyer (2003)
801903 BRCA2 T C TT Breast Cancer with Radiation Exposure Diez (2003)
801350 BRCA1 I D II Breast Cancer with Radiation Exposure Friedman (1994), Simard (1994)
801351 BRCA1 D I DD Breast Cancer with Radiation Exposure Johannsson (1996), Bergman (2001)
801352 BRCA1 A C AA Breast Cancer with Radiation Exposure Hansen (2008)
801497 BRCA1 C T CC Breast Cancer with Radiation Exposure Ozcelik (2003)
801498 BRCA1 A G AA Breast Cancer with Radiation Exposure Struewing (1995)
801499 BRCA1 C T CC Breast Cancer with Radiation Exposure Dong (1998)
801905 BRCA2 A G AA Breast Cancer with Radiation Exposure Bonatti (2006)
801906 BRCA2 G A GG Breast Cancer with Radiation Exposure Marroni (2004)

801353 BRCA1 G A -- Barker (1996)
Radiation Exposure)
Dante Labs
801500 BRCA1 C A CC Breast Cancer with Radiation Exposure Merajver (1995)
801501 BRCA1 T A TT Breast Cancer with Radiation Exposure Gayther (1995)
801502 BRCA1 A G AA Breast Cancer with Radiation Exposure Valarmathi (2003)
801907 BRCA2 G A GG Breast Cancer with Radiation Exposure Peelen (2000)
801908 BRCA2 G A GG Breast Cancer with Radiation Exposure Marroni (2004)
801354 BRCA1 T C TT Breast Cancer with Radiation Exposure
801356 BRCA1 C A CC Breast Cancer with Radiation Exposure
801357 BRCA1 C T CC Breast Cancer with Radiation Exposure
801503 BRCA1 C A CC Breast Cancer with Radiation Exposure Valarmathi (2003)
801504 BRCA1 A C AA Breast Cancer with Radiation Exposure Valarmathi (2003)
801505 BRCA1 T G TT Breast Cancer with Radiation Exposure Valarmathi (2003)
801910 BRCA2 G A GG Breast Cancer with Radiation Exposure Claes (2003)
801911 BRCA2 A G AA Breast Cancer with Radiation Exposure Wagner (1999)
801912 BRCA2 G A GG Breast Cancer with Radiation Exposure Claes (2003)
801358 BRCA1 G A GG Breast Cancer with Radiation Exposure
801361 BRCA1 A G -- Breast Cancer with Radiation Exposure Zuhlke (2004)
801506 BRCA1 C T CC Breast Cancer with Radiation Exposure Lalloo (2006)
801507 BRCA1 G C GG Breast Cancer with Radiation Exposure Gayther (1996)
801508 BRCA1 G C GG Breast Cancer with Radiation Exposure Valarmathi (2003)
801913 BRCA2 G T GG Breast Cancer with Radiation Exposure Gomez-Garcia (2005)
Dante Labs
801914 BRCA2 T A TT Breast Cancer with Radiation Exposure Meindl (2002)
801915 BRCA2 G A GG Breast Cancer with Radiation Exposure Evans (2003)
801509 BRCA1 G A GG Breast Cancer with Radiation Exposure Vehmanen (1997)
801510 BRCA1 C G CC Breast Cancer with Radiation Exposure Bergthorsson (2001)
801511 BRCA1 C T CC Breast Cancer with Radiation Exposure Valarmathi (2003)
801916 BRCA2 T C TT Breast Cancer with Radiation Exposure Evans (2001)
801917 BRCA2 A C -- Breast Cancer with Radiation Exposure Campos (2003)
801918 BRCA2 G A -- Breast Cancer with Radiation Exposure Han (2006)
801723 BRCA2 T G TT Breast Cancer with Radiation Exposure Pyne (2000), Wagner (2004), Meyer (2005), Alter (2007)
Neuhausen (1996), Roa (1996), Oddoux (1996), Ozcelik (1997), Nastiuk (1999), Tesoriero
(1999), Alter (2007)
801513 BRCA1 G A GG Breast Cancer with Radiation Exposure Stoppa-Lyonnet (1997)
801514 BRCA1 A C AA Breast Cancer with Radiation Exposure Monteiro (1996), Glover (2003), Glover (2003)
801727 BRCA2 I D II Breast Cancer with Radiation Exposure Thorlacius (1997), Sigbjornsdottir (2000)

801368 BRCA1 A G -- Han (2006)
Radiation Exposure)
801919 BRCA2 A G AA Breast Cancer with Radiation Exposure Sharp (2004)
801920 BRCA2 G A GG Breast Cancer with Radiation Exposure Han (2006)
801921 BRCA2 A G AA Breast Cancer with Radiation Exposure Plaschke (2000)
Dante Labs
801515 BRCA1 C T CC Breast Cancer with Radiation Exposure Sobczak (1997)
801516 BRCA1 G A GG Breast Cancer with Radiation Exposure der Hout (2006)
801517 BRCA1 C A CC Breast Cancer with Radiation Exposure Panguluri (1999)

801369 BRCA1 G T -- Shattuck-Eidens (1995)
Radiation Exposure)
801370 BRCA1 G A -- McKean-Cowdin (2005)
Radiation Exposure)
801371 BRCA1 T C -- Friend (1995)
Radiation Exposure)
801728 BRCA2 I D II Breast Cancer with Radiation Exposure Hirsch (2004), Reid (2005), Alter (2007)
801923 BRCA2 T G TT Breast Cancer with Radiation Exposure Han (2006)
801924 BRCA2 C T CC Breast Cancer with Radiation Exposure Kim (2005)

801372 BRCA1 C A -- Couch (1996), Sanjose (2002)
Radiation Exposure)
801373 BRCA1 C T -- Friedman (1994), Friedman (1994)
Radiation Exposure)
801518 BRCA1 C A CC Breast Cancer with Radiation Exposure Bonadona (2005)
801519 BRCA1 C A CC Breast Cancer with Radiation Exposure Panguluri (1999)
801520 BRCA1 A G AA Breast Cancer with Radiation Exposure Lee (2003)
801925 BRCA2 A G -- Breast Cancer with Radiation Exposure Han (2006)
801926 BRCA2 A T AA Breast Cancer with Radiation Exposure Han (2006)
801927 BRCA2 A C AA Breast Cancer with Radiation Exposure Seo (2004)

801374 BRCA1 C T -- Schoumacher (2001)
Radiation Exposure)
801375 BRCA1 C A CC Breast Cancer with Radiation Exposure Couch (1996)
801376 BRCA1 A G AA Breast Cancer with Radiation Exposure Castilla (1994)
801522 BRCA1 C T CC Breast Cancer with Radiation Exposure Seo (2004)
801523 BRCA1 C A CC Breast Cancer with Radiation Exposure der Hout (2006)
Dante Labs
801928 BRCA2 A G -- Breast Cancer with Radiation Exposure Seo (2004)
801929 BRCA2 A C AA Breast Cancer with Radiation Exposure Han (2006)
801930 BRCA2 A G AA Breast Cancer with Radiation Exposure Choi (2004)
801377 BRCA1 G A GG Breast Cancer with Radiation Exposure Adem (2003)
801378 BRCA1 A G AA Breast Cancer with Radiation Exposure Malone (1998)
801379 BRCA1 T C -- Breast Cancer with Radiation Exposure Castilla (1994)
801524 BRCA1 G A GG Breast Cancer with Radiation Exposure Serova (1996)
801525 BRCA1 C A CC Breast Cancer with Radiation Exposure Llort (2002)
801526 BRCA1 A G AA Breast Cancer with Radiation Exposure Montagna (1996)
801931 BRCA2 A G AA Breast Cancer with Radiation Exposure Seo (2004)
801932 BRCA2 G A -- Breast Cancer with Radiation Exposure Choi (2004)
801933 BRCA2 A C AA Breast Cancer with Radiation Exposure Han (2006)
801382 BRCA1 A T AA Breast Cancer with Radiation Exposure Inoue (1995)
801527 BRCA1 C T CC Breast Cancer with Radiation Exposure Couch (1996)
801529 BRCA1 A C -- Breast Cancer with Radiation Exposure Sharp (2004)
801934 BRCA2 G T GG Breast Cancer with Radiation Exposure Han (2006)
801935 BRCA2 T G TT Breast Cancer with Radiation Exposure Han (2006)
801936 BRCA2 C G CC Breast Cancer with Radiation Exposure Han (2006)
801383 BRCA1 A G AA Breast Cancer with Radiation Exposure Caligo (1996)
801384 BRCA1 C T CC Breast Cancer with Radiation Exposure Couch (1996)
801385 BRCA1 G A GG Breast Cancer with Radiation Exposure Stoppa-Lyonnet (1997)
Dante Labs
801530 BRCA1 T C TT Breast Cancer with Radiation Exposure Vehmanen (1997)
801531 BRCA1 C T CC Breast Cancer with Radiation Exposure Gayther (1995)
801532 BRCA1 C T CC Breast Cancer with Radiation Exposure Permuth-Way (2004), Easton (2007)
801937 BRCA2 A G AA Breast Cancer with Radiation Exposure Han (2006)
801939 BRCA2 T C TT Breast Cancer with Radiation Exposure Han (2006)

801729 BRCA2 A G -- Serova (1997)
Radiation Exposure)
801730 BRCA2 G C -- Sanjose (2003)
Radiation Exposure)
801731 BRCA2 C A -- Sinilnikova (1999)
Radiation Exposure)
801386 BRCA1 C G CC Breast Cancer with Radiation Exposure Pericay (2001)
801387 BRCA1 T G TT Breast Cancer with Radiation Exposure Hedau (2004)
801388 BRCA1 A G AA Breast Cancer with Radiation Exposure Hedau (2004)
801533 BRCA1 A G AA Breast Cancer with Radiation Exposure Parton (2002)
801534 BRCA1 A G AA Breast Cancer with Radiation Exposure Gayther (1995)
801535 BRCA1 C T CC Breast Cancer with Radiation Exposure Adem (2003)
801940 BRCA2 A G -- Breast Cancer with Radiation Exposure Yassaee (2002)
801941 BRCA2 T G TT Breast Cancer with Radiation Exposure Yassaee (2002)
801942 BRCA2 T A TT Breast Cancer with Radiation Exposure Sakayori (2003)
801389 BRCA1 G A -- Breast Cancer with Radiation Exposure Hu (2003)
801390 BRCA1 T A TT Breast Cancer with Radiation Exposure Caligo (1996)
801391 BRCA1 G A GG Breast Cancer with Radiation Exposure Gayther (1995)

801732 BRCA2 A G -- Sanjose (2003)
Radiation Exposure)
801733 BRCA2 G T -- Wagner (1999)
Radiation Exposure)
801734 BRCA2 C T -- Wagner (1999)
Radiation Exposure)
Dante Labs
801536 BRCA1 C G CC Breast Cancer with Radiation Exposure Adem (2003)
801537 BRCA1 A G AA Breast Cancer with Radiation Exposure Scholl (1999)
801538 BRCA1 T G TT Breast Cancer with Radiation Exposure Andersen (1998)
801392 BRCA1 T C -- Breast Cancer with Radiation Exposure Hamann (2003)
801393 BRCA1 A C AA Breast Cancer with Radiation Exposure Sanjose (2003)
801394 BRCA1 G A GG Breast Cancer with Radiation Exposure Hu (2003)
801539 BRCA1 C A CC Breast Cancer with Radiation Exposure Song (2006)
801540 BRCA1 C T CC Breast Cancer with Radiation Exposure Bergthorsson (1998)
801541 BRCA1 C G CC Breast Cancer with Radiation Exposure Johannsson (1996)

801735 BRCA2 C T -- Wagner (1999)
Radiation Exposure)
801736 BRCA2 A T -- Kim (2005)
Radiation Exposure)
801737 BRCA2 A G -- Serova-Sinilnikova (1997)
Radiation Exposure)
801943 BRCA2 T G TT Breast Cancer with Radiation Exposure Sakayori (2003)
801944 BRCA2 A C AA Breast Cancer with Radiation Exposure Sanjose (2003)
801395 BRCA1 A C AA Breast Cancer with Radiation Exposure der Hout (2006)
801396 BRCA1 C T CC Breast Cancer with Radiation Exposure Emi (1998)
801397 BRCA1 C T CC Breast Cancer with Radiation Exposure Sakayori (2003)
801543 BRCA1 C G CC Breast Cancer with Radiation Exposure Dong (1998)
801544 BRCA1 C A CC Breast Cancer with Radiation Exposure Gayther (1995)
801738 BRCA2 T C TT Breast Cancer with Radiation Exposure Katagiri (1998)
801740 BRCA2 G T GG Breast Cancer with Radiation Exposure Bergthorsson (2001)
Dante Labs
801399 BRCA1 C T CC Breast Cancer with Radiation Exposure Hakansson (1997)
801400 BRCA1 T A TT Breast Cancer with Radiation Exposure Kadouri (2004)
801545 BRCA1 T C TT Breast Cancer with Radiation Exposure Esteban-Cardenosa (2004)
801546 BRCA1 C A CC Breast Cancer with Radiation Exposure Hamann (1997)
801547 BRCA1 C G CC Breast Cancer with Radiation Exposure Song (2006)
801402 BRCA1 G A GG Breast Cancer with Radiation Exposure Zhou (2004)
801403 BRCA1 C T CC Breast Cancer with Radiation Exposure Zhou (2004)
801548 BRCA1 A C AA Breast Cancer with Radiation Exposure Claes (2002)
801549 BRCA1 T C TT Breast Cancer with Radiation Exposure Hoffman (1998)
801550 BRCA1 C T CC Breast Cancer with Radiation Exposure der Hout (2006)
801742 BRCA2 C G CC Breast Cancer with Radiation Exposure der Hout (2006)
801405 BRCA1 A C -- Breast Cancer with Radiation Exposure Couch (1996)
801551 BRCA1 A C AA Breast Cancer with Radiation Exposure Friedman (1994)
801552 BRCA1 C T CC Breast Cancer with Radiation Exposure Friedman (1995)
801553 BRCA1 A G AA Breast Cancer with Radiation Exposure Gayther (1995)
801407 BRCA1 T A TT Breast Cancer with Radiation Exposure Garcia-Patino (1998)
801408 BRCA1 A T AA Breast Cancer with Radiation Exposure Kadouri (2004)
801409 BRCA1 C A CC Breast Cancer with Radiation Exposure Llort (2002)
801554 BRCA1 C T CC Breast Cancer with Radiation Exposure Chen (2006)
Dante Labs
801555 BRCA1 A G AA Breast Cancer with Radiation Exposure Pyne (1999)
801556 BRCA1 T G TT Breast Cancer with Radiation Exposure Scott (2003)
801745 BRCA2 T G TT Breast Cancer with Radiation Exposure Thiffault (2004)
801746 BRCA2 A G AA Breast Cancer with Radiation Exposure Salazar (2006)
801411 BRCA1 A C AA Breast Cancer with Radiation Exposure Katagiri (1998)
801557 BRCA1 T C TT Breast Cancer with Radiation Exposure Meindl (2002)
801558 BRCA1 A G AA Breast Cancer with Radiation Exposure Abkevich (2004)
801413 BRCA1 A T AA Breast Cancer with Radiation Exposure El-Harith (2002)
801414 BRCA1 C A CC Breast Cancer with Radiation Exposure Zhi (2002)
801415 BRCA1 T A TT Breast Cancer with Radiation Exposure Palmieri (2002)
801561 BRCA1 G C GG Breast Cancer with Radiation Exposure Abkevich (2004)
801747 BRCA2 G A GG Breast Cancer with Radiation Exposure Couch (1996)
801748 BRCA2 C G CC Breast Cancer with Radiation Exposure Katagiri (1998)
801417 BRCA1 G C GG Breast Cancer with Radiation Exposure Garvin (1996)
801418 BRCA1 A C AA Breast Cancer with Radiation Exposure Frost (2005)
801563 BRCA1 A T AA Breast Cancer with Radiation Exposure Abkevich (2004)
Dante Labs
801564 BRCA1 A G AA Breast Cancer with Radiation Exposure Rostagno (2003)
801565 BRCA1 T C TT Breast Cancer with Radiation Exposure Abkevich (2004)
801419 BRCA1 G A GG Breast Cancer with Radiation Exposure Friedman (1995)
801420 BRCA1 G A GG Breast Cancer with Radiation Exposure Eerola (2005)
801421 BRCA1 G A GG Breast Cancer with Radiation Exposure Dong (1998)
801567 BRCA1 T G TT Breast Cancer with Radiation Exposure Abkevich (2004)
801568 BRCA1 T A TT Breast Cancer with Radiation Exposure Abkevich (2004)
801751 BRCA2 G A GG Breast Cancer with Radiation Exposure Salazar (2006)
801752 BRCA2 A T AA Breast Cancer with Radiation Exposure der Hout (2006)
801422 BRCA1 T G -- Breast Cancer with Radiation Exposure El-Harith (2002)
801423 BRCA1 T C TT Breast Cancer with Radiation Exposure Lee (2003)
801424 BRCA1 G A GG Breast Cancer with Radiation Exposure Shattuck-Eidens (1995)
801569 BRCA1 C T CC Breast Cancer with Radiation Exposure Gad (2002)
801570 BRCA1 C A CC Breast Cancer with Radiation Exposure NI consortium (2003)
801571 BRCA1 T C TT Breast Cancer with Radiation Exposure Wagner (1999)
801426 BRCA1 T A TT Breast Cancer with Radiation Exposure Loizidou (2007)
801427 BRCA1 A T AA Breast Cancer with Radiation Exposure Gayther (1995)
801573 BRCA1 A C AA Breast Cancer with Radiation Exposure Patmasiriwat (2002)
801428 BRCA1 T C TT Breast Cancer with Radiation Exposure Ozdag (2000)
Dante Labs
801430 BRCA1 G A GG Breast Cancer with Radiation Exposure Lee (2003)
801755 BRCA2 T G TT Breast Cancer with Radiation Exposure Salazar (2006)
801576 BRCA1 G T GG Breast Cancer with Radiation Exposure Abkevich (2004)
801577 BRCA1 G A GG Breast Cancer with Radiation Exposure Oros (2004)
801431 BRCA1 C A CC Breast Cancer with Radiation Exposure Kadouri (2004)
801432 BRCA1 C A CC Breast Cancer with Radiation Exposure Ramus (1997)
801578 BRCA1 C T CC Breast Cancer with Radiation Exposure Kumar (2002)
801579 BRCA1 G T GG Breast Cancer with Radiation Exposure Kroiss (2005)
801580 BRCA1 C A CC Breast Cancer with Radiation Exposure van Orsouw (1999)
801434 BRCA1 A G -- Breast Cancer with Radiation Exposure Castilla (1994)
801435 BRCA1 G A GG Breast Cancer with Radiation Exposure Hogervorst (1995)
801436 BRCA1 C A CC Breast Cancer with Radiation Exposure Liede (1998)
801756 BRCA2 T A TT Breast Cancer with Radiation Exposure Serova-Sinilnikova (1997)
801757 BRCA2 A G -- Breast Cancer with Radiation Exposure Malone (2000)
801758 BRCA2 G T GG Breast Cancer with Radiation Exposure Eerola (2005)
801581 BRCA1 G A -- Breast Cancer with Radiation Exposure Fries (2002)
801582 BRCA1 A T AA Breast Cancer with Radiation Exposure Meyer (2003)
801583 BRCA1 C A CC Breast Cancer with Radiation Exposure Sinilnikova (2006)
801437 BRCA1 T C -- Breast Cancer with Radiation Exposure Couch (1996)
Dante Labs
801438 BRCA1 G A GG Breast Cancer with Radiation Exposure Perkowska (2003)
801439 BRCA1 A G -- Breast Cancer with Radiation Exposure Emi (1998)
801584 BRCA1 G A GG Breast Cancer with Radiation Exposure Diez (1999)
801585 BRCA1 A C AA Breast Cancer with Radiation Exposure Peyrat (1998)
801586 BRCA1 G T GG Breast Cancer with Radiation Exposure Reeves (2004)
801759 BRCA2 A C -- Breast Cancer with Radiation Exposure Sakayori (2003)
801760 BRCA2 C A CC Breast Cancer with Radiation Exposure Salazar (2006)
801761 BRCA2 A T -- Breast Cancer with Radiation Exposure Sanjose (2003)
801587 BRCA1 A C AA Breast Cancer with Radiation Exposure Meindl (2002)
801588 BRCA1 G A GG Breast Cancer with Radiation Exposure Rashid (2006)
801589 BRCA1 G A GG Breast Cancer with Radiation Exposure Peyrat (1998)
801591 BRCA1 T G TT Breast Cancer with Radiation Exposure Weber (2004)
801592 BRCA1 C A CC Breast Cancer with Radiation Exposure Kroiss (2005)
801593 BRCA1 A C AA Breast Cancer with Radiation Exposure Bergman (2005)
801594 BRCA1 A G AA Breast Cancer with Radiation Exposure Maillet (2006)
801595 BRCA1 C A CC Breast Cancer with Radiation Exposure Moleshi (2003)
801762 BRCA2 A T AA Breast Cancer with Radiation Exposure Hakansson (1997)
801763 BRCA2 C G -- Breast Cancer with Radiation Exposure Sanjose (2003)
801764 BRCA2 C G -- Breast Cancer with Radiation Exposure Sanjose (2003)
801596 BRCA1 C A CC Breast Cancer with Radiation Exposure Li (2006)
801597 BRCA1 T A TT Breast Cancer with Radiation Exposure Weitzel (2005)
801598 BRCA1 G A GG Breast Cancer with Radiation Exposure Worsham (1998)
Dante Labs
801766 BRCA2 C T CC Breast Cancer with Radiation Exposure der Hout (2006)
801767 BRCA2 C G CC Breast Cancer with Radiation Exposure Tereschenko (2002)
801599 BRCA1 G C GG Breast Cancer with Radiation Exposure Vaziri (2000)
801600 BRCA1 C T -- Breast Cancer with Radiation Exposure Schoumacher (2001)
801602 BRCA1 A C AA Breast Cancer with Radiation Exposure Abkevich (2004)
801603 BRCA1 G C GG Breast Cancer with Radiation Exposure Marroni (2004)
801604 BRCA1 G A -- Breast Cancer with Radiation Exposure Balz (2002)
801768 BRCA2 G A GG Breast Cancer with Radiation Exposure Kwiatkowska (2000)
801769 BRCA2 G T GG Breast Cancer with Radiation Exposure Duran (2003)
801770 BRCA2 C T -- Breast Cancer with Radiation Exposure Sanjose (2003)
801605 BRCA1 C A CC Breast Cancer with Radiation Exposure Reeves (2004)
801606 BRCA1 G T GG Breast Cancer with Radiation Exposure Weitzel (2005)
801607 BRCA1 G A GG Breast Cancer with Radiation Exposure Balz (2002)
801771 BRCA2 G T GG Breast Cancer with Radiation Exposure Sakayori (2003)
801772 BRCA2 C G CC Breast Cancer with Radiation Exposure Ozcelik (2003)
801773 BRCA2 A T AA Breast Cancer with Radiation Exposure Edwards (2001)
801608 BRCA1 G C GG Breast Cancer with Radiation Exposure Kroiss (2005)
801609 BRCA1 G C GG Breast Cancer with Radiation Exposure Patmasiriwat (2002)
801610 BRCA1 T A TT Breast Cancer with Radiation Exposure Li (2006)
801611 BRCA1 C A CC Breast Cancer with Radiation Exposure Kang (2002)
801612 BRCA1 C G CC Breast Cancer with Radiation Exposure McKean-Cowdin (2005)
801613 BRCA1 A C AA Breast Cancer with Radiation Exposure Kroiss (2005)
801774 BRCA2 G T GG Breast Cancer with Radiation Exposure Syrjakoski (2000)
Dante Labs
801775 BRCA2 G T GG Breast Cancer with Radiation Exposure Phelan (1996)
801776 BRCA2 G T GG Breast Cancer with Radiation Exposure Palli (2004)
801614 BRCA1 G A GG Breast Cancer with Radiation Exposure Schorge (2001)
801615 BRCA1 C A CC Breast Cancer with Radiation Exposure Curci (2002)
801777 BRCA2 G T GG Breast Cancer with Radiation Exposure Serova-Sinilnikova (1997)
801778 BRCA2 C A CC Breast Cancer with Radiation Exposure Gayther (1997)
801779 BRCA2 C T CC Breast Cancer with Radiation Exposure De Benedetti (1998)
801617 BRCA1 G C -- Breast Cancer with Radiation Exposure Abkevich (2004)
801618 BRCA1 C A CC Breast Cancer with Radiation Exposure Maillet (2006)
801619 BRCA1 G T GG Breast Cancer with Radiation Exposure Meindl (2002)
801780 BRCA2 C G CC Breast Cancer with Radiation Exposure Wagner (1999)
801781 BRCA2 G T GG Breast Cancer with Radiation Exposure Sakayori (2003)
801782 BRCA2 C G CC Breast Cancer with Radiation Exposure Jakubowska (2002)
801620 BRCA1 G A GG Breast Cancer with Radiation Exposure Kang (2002)
801621 BRCA1 T C TT Breast Cancer with Radiation Exposure Hadjisavvas (2004)
801622 BRCA1 G A GG Breast Cancer with Radiation Exposure Kroiss (2005)
801783 BRCA2 A G AA Breast Cancer with Radiation Exposure Jakubowska (2002)
801784 BRCA2 A C AA Breast Cancer with Radiation Exposure Jakubowska (2002)
801785 BRCA2 A C AA Breast Cancer with Radiation Exposure Edwards (2001)
801625 BRCA1 C T -- Breast Cancer with Radiation Exposure Weber (2004)
801626 BRCA1 C A CC Breast Cancer with Radiation Exposure Schorge (2001)
Dante Labs
801628 BRCA1 A G AA Breast Cancer with Radiation Exposure Figge (2004)
801787 BRCA2 C G CC Breast Cancer with Radiation Exposure Duran (2003)
801788 BRCA2 A G AA Breast Cancer with Radiation Exposure Edwards (2001)
801629 BRCA1 G A GG Breast Cancer with Radiation Exposure Abkevich (2004)
801630 BRCA1 C A -- Breast Cancer with Radiation Exposure Figge (2004)
801631 BRCA1 G A GG Breast Cancer with Radiation Exposure Abkevich (2004)
801634 BRCA1 C G CC Breast Cancer with Radiation Exposure Abkevich (2004)
801789 BRCA2 C G CC Breast Cancer with Radiation Exposure Malone (2000)
801791 BRCA2 C T CC Breast Cancer with Radiation Exposure Duran (2003)
801635 BRCA1 G A GG Breast Cancer with Radiation Exposure Abkevich (2004), Easton (2007)
801792 BRCA2 C T CC Breast Cancer with Radiation Exposure Kiechle (2000)
801793 BRCA2 C T CC Breast Cancer with Radiation Exposure Vehmanen (1997)
801794 BRCA2 C T CC Breast Cancer with Radiation Exposure Hakansson (1997)
801636 BRCA1 C T CC Breast Cancer with Radiation Exposure Rostagno (2003)
801639 BRCA1 G A GG Breast Cancer with Radiation Exposure Chenevix-Trench (2006)
801640 BRCA1 C A CC Breast Cancer with Radiation Exposure Fricker (2000)
801641 BRCA1 C T CC Breast Cancer with Radiation Exposure Diez (1999)
Dante Labs
801795 BRCA2 C T CC Breast Cancer with Radiation Exposure Musolino (2005)
801796 BRCA2 G A GG Breast Cancer with Radiation Exposure Perkowska (2003)
801797 BRCA2 T A TT Breast Cancer with Radiation Exposure No authors listed (1997)
801643 BRCA1 T G TT Breast Cancer with Radiation Exposure Abkevich (2004)
801644 BRCA1 T A TT Breast Cancer with Radiation Exposure Abkevich (2004)
801798 BRCA2 C T CC Breast Cancer with Radiation Exposure Bergthorsson (2001)
801799 BRCA2 C T CC Breast Cancer with Radiation Exposure Serova-Sinilnikova (1997)
801800 BRCA2 C G CC Breast Cancer with Radiation Exposure Fackenthal (2002)
801649 BRCA1 T C TT Breast Cancer with Radiation Exposure Rostagno (2003)
801801 BRCA2 G C GG Breast Cancer with Radiation Exposure Goldgar (2004)
801802 BRCA2 A C AA Breast Cancer with Radiation Exposure Scott (2003)
801803 BRCA2 T G TT Breast Cancer with Radiation Exposure Vehmanen (1997)
801652 BRCA1 C T CC Breast Cancer with Radiation Exposure Gad (2002)
Dante Labs
801654 BRCA1 A G AA Breast Cancer with Radiation Exposure Figge (2004)
801655 BRCA1 C A CC Breast Cancer with Radiation Exposure Curci (2002)
801807 BRCA2 A G -- Breast Cancer with Radiation Exposure Sanjose (2003)
801808 BRCA2 C A CC Breast Cancer with Radiation Exposure Scott (2003)
801809 BRCA2 C G CC Breast Cancer with Radiation Exposure Gayther (1997)
801657 BRCA1 T A -- Breast Cancer with Radiation Exposure Abkevich (2004)
801659 BRCA1 C T CC Breast Cancer with Radiation Exposure Evans (2003)
801660 BRCA1 A G -- Breast Cancer with Radiation Exposure Abkevich (2004)
801810 BRCA2 C A CC Breast Cancer with Radiation Exposure Bonadona (2005)
801811 BRCA2 T G TT Breast Cancer with Radiation Exposure Ahn (2007)
801812 BRCA2 G A GG Breast Cancer with Radiation Exposure Salazar (2006)
801663 BRCA1 T G TT Breast Cancer with Radiation Exposure Maillet (2006)
801664 BRCA1 A C AA Breast Cancer with Radiation Exposure Figge (2004)
801666 BRCA1 G C GG Breast Cancer with Radiation Exposure Martinez-Ferrandis (2003)
801667 BRCA1 C T CC Breast Cancer with Radiation Exposure Montagna (1996)
801813 BRCA2 A T AA Breast Cancer with Radiation Exposure Duran (2003)
801815 BRCA2 C G CC Breast Cancer with Radiation Exposure NI consortium (2003)
Dante Labs
801670 BRCA1 G A GG Breast Cancer with Radiation Exposure Kroiss (2005)
801816 BRCA2 T C -- Breast Cancer with Radiation Exposure Serova-Sinilnikova (1997)
801818 BRCA2 C T CC Breast Cancer with Radiation Exposure Plaschke (2000)
801672 BRCA1 T G TT Breast Cancer with Radiation Exposure Keaton (2003)
801673 BRCA1 C T CC Breast Cancer with Radiation Exposure Evans (2003)
801674 BRCA1 C T CC Breast Cancer with Radiation Exposure Bonatti (2006)
801675 BRCA1 A C AA Breast Cancer with Radiation Exposure NI consortium (2003)
801676 BRCA1 C T CC Breast Cancer with Radiation Exposure Liede (2002)
801819 BRCA2 G A GG Breast Cancer with Radiation Exposure Nedelcu (2002)
801820 BRCA2 A G -- Breast Cancer with Radiation Exposure Kwiatkowska (2000)
801821 BRCA2 C T CC Breast Cancer with Radiation Exposure Kim (2006)
801679 BRCA1 T C -- Breast Cancer with Radiation Exposure Gao (2001)
801680 BRCA1 T C TT Breast Cancer with Radiation Exposure Meyer (2003)
801822 BRCA2 C T -- Breast Cancer with Radiation Exposure Jakubowska (1999)
801823 BRCA2 G C GG Breast Cancer with Radiation Exposure Serova-Sinilnikova (1997)
801824 BRCA2 G A GG Breast Cancer with Radiation Exposure Bergthorsson (2001)
801683 BRCA1 C T CC Breast Cancer with Radiation Exposure Campos (2003)
Dante Labs
801684 BRCA1 C G CC Breast Cancer with Radiation Exposure Kroiss (2005)
801685 BRCA1 C G CC Breast Cancer with Radiation Exposure Hoya (2002)
801686 BRCA1 C T CC Breast Cancer with Radiation Exposure Hoya (2001), Easton (2007)
801827 BRCA2 G A GG Breast Cancer with Radiation Exposure Hofmann (2003)
801687 BRCA1 C G CC Breast Cancer with Radiation Exposure Hoya (2002)
801688 BRCA1 A C AA Breast Cancer with Radiation Exposure Meindl (2002)
801689 BRCA1 C T CC Breast Cancer with Radiation Exposure Fricker (2000)
801828 BRCA2 A G AA Breast Cancer with Radiation Exposure Scott (2003)
801829 BRCA2 G A GG Breast Cancer with Radiation Exposure Agata (2003)
801830 BRCA2 G A GG Breast Cancer with Radiation Exposure Scott (2003)
801690 BRCA1 T C TT Breast Cancer with Radiation Exposure Campos (2003)
801691 BRCA1 C T CC Breast Cancer with Radiation Exposure Ladopoulou (2002)
801692 BRCA1 T G TT Breast Cancer with Radiation Exposure Phelan (2002)
801831 BRCA2 G T GG Breast Cancer with Radiation Exposure Katagiri (1998)
801832 BRCA2 A G AA Breast Cancer with Radiation Exposure Vehmanen (1997), Sarantaus (2000), Sarantaus (2000)
801693 BRCA1 C G CC Breast Cancer with Radiation Exposure Evans (2003)
801695 BRCA1 C T CC Breast Cancer with Radiation Exposure Osorio (2003)
801696 BRCA1 C A CC Breast Cancer with Radiation Exposure Evans (2003)
801833 BRCA2 C T CC Breast Cancer with Radiation Exposure Llort (2002)
801835 BRCA2 T G TT Breast Cancer with Radiation Exposure Vehmanen (1997)
Dante Labs
801836 BRCA2 G T GG Breast Cancer with Radiation Exposure Schoumacher (2001)
801837 BRCA2 C T CC Breast Cancer with Radiation Exposure Hadjisavvas (2004)
801838 BRCA2 C T CC Breast Cancer with Radiation Exposure Infante (2006)
801839 BRCA2 C T CC Breast Cancer with Radiation Exposure Maillet (2006)
801840 BRCA2 C A CC Breast Cancer with Radiation Exposure Meyer (2003)
801841 BRCA2 C T CC Breast Cancer with Radiation Exposure Frank (1998)
801842 BRCA2 A G AA Breast Cancer with Radiation Exposure Wagner (1999)
801843 BRCA2 A T AA Breast Cancer with Radiation Exposure Hoya (2002)
801844 BRCA2 A T AA Breast Cancer with Radiation Exposure Kang (2002)

Cantor (2001), Cantor (2004), Dapic (2005), Seal (2006), Garcia-Closas (2006), Byrnes (2008),
45793 BRIP1 G C GG Breast Cancer Wu (2010), Cantor (2010), Cantor (2011), Ren (2013), Ramus (2015), Zou (2016), Kinnersley
(2016), Susswein (2016 - Poster P089)
45815 BRIP1 C T CC Breast Cancer Cantor (2001)
45303 BRCA1 A G AA Breast Cancer Gayther (1995)
45311 BRCA1 C T CC Breast Cancer Adem (2003)
45315 BRCA1 C G CC Breast Cancer Adem (2003)
46669 PTEN A C AA Breast Cancer Figer (2002)
801966 PTEN A C AA Breast Cancer with Radiation Exposure Figer (2002)
68601 FGFR2 A G AG Breast Cancer Hunter (2007), Stacey (2008), Raskin (2008)
45316 BRCA1 A G AA Breast Cancer Scholl (1999)
45318 BRCA1 T G TT Breast Cancer Andersen (1998)
45320 BRCA1 C A CC Breast Cancer Song (2006)
801756 BRCA2 G T GG Breast Cancer Eerola (2005)
801757 BRCA2 A C -- Breast Cancer Sakayori (2003)
801758 BRCA2 C A CC Breast Cancer Salazar (2006)
45321 BRCA1 C T CC Breast Cancer Bergthorsson (1998)

Dante Labs
45325 BRCA1 C G CC Breast Cancer Johannsson (1996)
45326 BRCA1 C A CC Breast Cancer Wagner (1999)
801759 BRCA2 A T -- Breast Cancer Sanjose (2003)
801760 BRCA2 A T AA Breast Cancer Hakansson (1997)
801761 BRCA2 C G -- Breast Cancer Sanjose (2003)
801961 FGFR2 A G AG Breast Cancer with Radiation Exposure Hunter (2007), Stacey (2008), Raskin (2008)
46668 PTEN G A GG Breast Cancer Figer (2002)

Cantor (2001), Cantor (2004), Dapic (2005), Seal (2006), Garcia-Closas (2006), Byrnes (2008),
45793 BRIP1 G C GG Breast Cancer with Radiation Exposure Wu (2010), Cantor (2010), Cantor (2011), Ren (2013), Ramus (2015), Zou (2016), Kinnersley
(2016), Susswein (2016 - Poster P089)
45330 BRCA1 C G CC Breast Cancer Dong (1998)
45331 BRCA1 C A CC Breast Cancer Gayther (1995)
45332 BRCA1 T C TT Breast Cancer Esteban-Cardenosa (2004)
801762 BRCA2 C G -- Breast Cancer Sanjose (2003)
801763 BRCA2 A G AA Breast Cancer Salazar (2006)
801764 BRCA2 C T CC Breast Cancer der Hout (2006)
49523 CHEK2 G A GG Breast Cancer Shaag (2005)
45777 BARD1 T C TT Breast Cancer Ghimenti (2002)
45337 BRCA1 C A CC Breast Cancer Hamann (1997)
45346 BRCA1 C G CC Breast Cancer Song (2006)
45357 BRCA1 A C AA Breast Cancer Claes (2002)
45542 BRCA2 T G -- Breast Cancer Ganguly (1998)
45577 BRCA2 G T GG Breast Cancer Haraldsson (1998)
45473 BRCA2 G A -- Likely harmless variant (previously associated with Breast Cancer) Sinilnikova (1999)
801765 BRCA2 C G CC Breast Cancer Tereschenko (2002)
801766 BRCA2 G A GG Breast Cancer Kwiatkowska (2000)

Dante Labs
801767 BRCA2 G T GG Breast Cancer Duran (2003)
801962 BARD1 T C TT Breast Cancer with Radiation Exposure Ghimenti (2002)
45779 BARD1 T C -- Breast Cancer & Breast Cancer with Radiation Exposure Ishitobi (2003)
47365 TP53 G A -- Breast Cancer & Breast Cancer with Radiation Exposure Sun (1996), Masciari (2005)
45361 BRCA1 T C TT Breast Cancer Hoffman (1998)
45362 BRCA1 C T CC Breast Cancer der Hout (2006)
45363 BRCA1 A C AA Breast Cancer Friedman (1994)
47367 TP53 C T CC Breast Cancer Hedau (2004), Masciari (2005)
47393 TP53 C T CC Breast Cancer Borresen (1992), Frebourg (1992), Masciari (2005)
801768 BRCA2 C T -- Breast Cancer Sanjose (2003)
801769 BRCA2 G T GG Breast Cancer Sakayori (2003)
801770 BRCA2 C G CC Breast Cancer Ozcelik (2003)
45453 BRCA2 G A -- Likely harmless variant (previously associated with Breast Cancer) Sanjose (2003)
801282 BRCA2 A C -- Likely harmless variant (previously associated with Breast Cancer) Katagari (1996)
45366 BRCA1 C T CC Breast Cancer Friedman (1995)
45369 BRCA1 A G AA Breast Cancer Gayther (1995)
45372 BRCA1 C T CC Breast Cancer Chen (2006)
47438 TP53 C T CC Breast Cancer Prosser (1992), Masciari (2005)
47449 TP53 G A GG Breast Cancer Speiser (1996), Masciari (2005)
47486 TP53 T G TT Breast Cancer Jolly (1994), Masciari (2005)
801771 BRCA2 A T AA Breast Cancer Edwards (2001)
801772 BRCA2 G T GG Breast Cancer Syrjakoski (2000)
801773 BRCA2 G T GG Breast Cancer Phelan (1996)
45374 BRCA1 A G AA Breast Cancer Pyne (1999)
Dante Labs
45375 BRCA1 T G TT Breast Cancer Scott (2003)
44964 BRCA1 T C TT Breast Cancer Meindl (2002)
44965 BRCA1 A G AA Breast Cancer Abkevich (2004)
801774 BRCA2 G T GG Breast Cancer Palli (2004)
801775 BRCA2 G T GG Breast Cancer Serova-Sinilnikova (1997)
801776 BRCA2 C A CC Breast Cancer Gayther (1997)
801283 BRCA2 A G AA Breast Cancer Scott (2002)
801284 BRCA2 A G AA Breast Cancer Baudi (2003)
801285 BRCA2 A G AA Breast Cancer Jakubowska (2003)
49025 PALB2 C A CC Breast Cancer Rahman (2007)
801964 PALB2 C A CC Breast Cancer with Radiation Exposure Rahman (2007)
49027 PALB2 C T CC Breast Cancer Rahman (2007)
801777 BRCA2 C T CC Breast Cancer De Benedetti (1998)
801778 BRCA2 C G CC Breast Cancer Wagner (1999)
801779 BRCA2 G T GG Breast Cancer Sakayori (2003)
44976 BRCA1 G C GG Breast Cancer Abkevich (2004)
44977 BRCA1 C A CC Breast Cancer Abkevich (2004)
44978 BRCA1 A T AA Breast Cancer Abkevich (2004)
801963 PALB2 C T CC Breast Cancer with Radiation Exposure Rahman (2007)
800942 PALB2 G C GG Breast Cancer Reid (2007), Rahman (2007)
801286 BRCA2 C A CC Breast Cancer Howlett (2002)
801287 BRCA2 C T CC Breast Cancer Offit (2003), Alter (2007)
Dante Labs
801288 BRCA2 G T -- Likely harmless variant (previously associated with Breast Cancer) Schoumacher (2001)
801780 BRCA2 C G CC Breast Cancer Jakubowska (2002)
801781 BRCA2 A G AA Breast Cancer Jakubowska (2002)
801782 BRCA2 A C AA Breast Cancer Jakubowska (2002)
44979 BRCA1 A G AA Breast Cancer Rostagno (2003)
44981 BRCA1 T C TT Breast Cancer Abkevich (2004)
801783 BRCA2 A C AA Breast Cancer Edwards (2001)
801784 BRCA2 G T GG Breast Cancer der Hout (2006)
801785 BRCA2 C G CC Breast Cancer Duran (2003)
44983 BRCA1 T G TT Breast Cancer Abkevich (2004)
44984 BRCA1 T A TT Breast Cancer Abkevich (2004)
44985 BRCA1 C T CC Breast Cancer Gad (2002)
801289 BRCA2 G T GG Breast Cancer Haraldsson (1998)
801290 BRCA2 G T GG Breast Cancer Hirsch (2004)
801291 BRCA2 G T GG Breast Cancer Katagiri (1996)
801786 BRCA2 A G AA Breast Cancer Edwards (2001)
801787 BRCA2 C G CC Breast Cancer Malone (2000)
801788 BRCA2 C T CC Breast Cancer Wagner (1999)
44986 BRCA1 C A CC Breast Cancer NI consortium (2003)
44988 BRCA1 T C TT Breast Cancer Wagner (1999)
44989 BRCA1 C T CC Breast Cancer Abkevich (2004)
801789 BRCA2 C T CC Breast Cancer Duran (2003)
801790 BRCA2 C T CC Breast Cancer Kiechle (2000)
Dante Labs
801791 BRCA2 C T CC Breast Cancer Vehmanen (1997)
49507 CHEK2 T C TT Breast Cancer Sodha (2002)
800944 CHEK2 C T -- Breast Cancer & Breast Cancer with Radiation Exposure Sodha (2002)
44995 BRCA1 A C AA Breast Cancer Patmasiriwat (2002)
44998 BRCA1 C T CC Breast Cancer Meindl (2002)
801292 BRCA2 G A GG Breast Cancer Hahn (2003)
801293 BRCA2 G A GG Breast Cancer Howlett (2002)
801294 BRCA2 G A GG Breast Cancer Howlett (2002)
801792 BRCA2 C T CC Breast Cancer Hakansson (1997)
801793 BRCA2 C T CC Breast Cancer Musolino (2005)
801794 BRCA2 G A GG Breast Cancer Perkowska (2003)
44999 BRCA1 G T GG Breast Cancer Abkevich (2004)
45001 BRCA1 G A GG Breast Cancer Oros (2004)
45006 BRCA1 C T CC Breast Cancer Kumar (2002)
801295 BRCA2 G A GG Breast Cancer Popp (2003), Wagner (2004), Alter (2007)
801296 BRCA2 G A GG Breast Cancer Hansen (2008)
801795 BRCA2 T A TT Breast Cancer No authors listed (1997)
801796 BRCA2 C T CC Breast Cancer Bergthorsson (2001)
801797 BRCA2 C T CC Breast Cancer Serova-Sinilnikova (1997)
45007 BRCA1 G T GG Breast Cancer Kroiss (2005)
45008 BRCA1 C A CC Breast Cancer van Orsouw (1999)
45014 BRCA1 G A -- Breast Cancer Fries (2002)
70874 PALB2 I D II Breast Cancer Reid (2007), Rahman (2007)
Dante Labs
70875 PALB2 I D II Breast Cancer Erkko (2007)
801798 BRCA2 C G CC Breast Cancer Fackenthal (2002)
801799 BRCA2 G C GG Breast Cancer Goldgar (2004)
801800 BRCA2 A C AA Breast Cancer Scott (2003)
45017 BRCA1 A T AA Breast Cancer Meyer (2003)
45018 BRCA1 C A CC Breast Cancer Sinilnikova (2006)
45031 BRCA1 G A GG Breast Cancer Diez (1999)
801965 PALB2 I D II Breast Cancer with Radiation Exposure Erkko (2007)
44888 BRCA1 G A -- Harmless variant (previously associated with Breast Cancer) Barker (1996)
801297 BRCA2 G A -- Likely harmless variant (previously associated with Breast Cancer) Sinilnikova (1999)
801298 BRCA2 T C TT Breast Cancer Hirsch (2004)
801801 BRCA2 T G TT Breast Cancer Vehmanen (1997)
801802 BRCA2 A G AA Breast Cancer Malone (2000)
45036 BRCA1 A C AA Breast Cancer Peyrat (1998)
45040 BRCA1 G T GG Breast Cancer Reeves (2004)
45043 BRCA1 A C AA Breast Cancer Meindl (2002)

Variant of Unknown Significance (questionable association with
800905 BRCA1 A C AA Gorski (2000)
Breast Cancer)
44931 BRCA1 T C -- Harmless variant (previously associated with Breast Cancer) Zuhlke (2004)
801299 BRCA2 T G TT Breast Cancer Pyne (2000), Wagner (2004), Meyer (2005), Alter (2007)
801300 BRCA1 T C -- Likely harmless variant (previously associated with Breast Cancer) Schoumacher (2001)
801804 BRCA2 C T CC Breast Cancer Katagiri (1998)
801805 BRCA2 A G -- Breast Cancer Sanjose (2003)
801806 BRCA2 C A CC Breast Cancer Scott (2003)
Dante Labs
45047 BRCA1 G A GG Breast Cancer Rashid (2006)
45048 BRCA1 G A GG Breast Cancer Peyrat (1998)
45049 BRCA1 G A -- Breast Cancer Chenevix-Trench (2006)
44997 BRCA1 T C TT Breast Cancer Vega (2002), Diez (2003)
801301 BRCA2 A C -- Likely harmless variant (previously associated with Breast Cancer) Healey (2000), Teare (2004), Rudd (2006)
Neuhausen (1996), Roa (1996), Oddoux (1996), Ozcelik (1997), Nastiuk (1999), Tesoriero
801302 BRCA2 I D II Breast Cancer
(1999), Alter (2007)
801807 BRCA2 C G CC Breast Cancer Gayther (1997)
801808 BRCA2 C A CC Breast Cancer Bonadona (2005)
801809 BRCA2 T G TT Breast Cancer Ahn (2007)
45058 BRCA1 T G TT Breast Cancer Weber (2004)
45063 BRCA1 C A CC Breast Cancer Kroiss (2005)
45066 BRCA1 A C AA Breast Cancer Bergman (2005)
801810 BRCA2 G A GG Breast Cancer Salazar (2006)
801811 BRCA2 A T AA Breast Cancer Duran (2003)
45035 BRCA1 T C TT Breast Cancer Benedetti (1996)
45039 BRCA1 G A GG Breast Cancer Zuhlke (2004)
45060 BRCA1 C A CC Breast Cancer Katagiri (1998)
45069 BRCA1 A G AA Breast Cancer Maillet (2006)
45070 BRCA1 C A CC Breast Cancer Moleshi (2003)
45073 BRCA1 C A CC Breast Cancer Li (2006)
801303 BRCA2 I D II Breast Cancer Thorlacius (1997), Sigbjornsdottir (2000)
801813 BRCA2 C G CC Breast Cancer NI consortium (2003)
Dante Labs
801814 BRCA2 T C -- Breast Cancer Serova-Sinilnikova (1997)
801815 BRCA2 T C TT Breast Cancer Katagiri (1998)
45085 BRCA1 T C -- Breast Cancer Zuhlke (2004)
45119 BRCA1 T C -- Breast Cancer Zuhlke (2004)
45075 BRCA1 T A TT Breast Cancer Weitzel (2005)
45080 BRCA1 G A GG Breast Cancer Worsham (1998)
45083 BRCA1 G C GG Breast Cancer Vaziri (2000)
801816 BRCA2 C T CC Breast Cancer Plaschke (2000)
801817 BRCA2 G A GG Breast Cancer Nedelcu (2002)
801818 BRCA2 A G -- Breast Cancer Kwiatkowska (2000)
801726 BRCA2 I D II Breast Cancer Hirsch (2004), Reid (2005), Alter (2007)
45140 BRCA1 T C TT Breast Cancer Li (2002)
45150 BRCA1 C T -- Breast Cancer Zuhlke (2004)
45180 BRCA1 G A GG Breast Cancer Castilla (1994)
45094 BRCA1 C T -- Breast Cancer Schoumacher (2001)
45099 BRCA1 A C AA Breast Cancer Abkevich (2004)
801819 BRCA2 C T CC Breast Cancer Kim (2006)
801820 BRCA2 C T -- Breast Cancer Jakubowska (1999)
801821 BRCA2 G C GG Breast Cancer Serova-Sinilnikova (1997)
45100 BRCA1 G C GG Breast Cancer Marroni (2004)
45101 BRCA1 G A -- Breast Cancer Balz (2002)
45103 BRCA1 C A CC Breast Cancer Reeves (2004)
Dante Labs
801727 BRCA2 A G -- Breast Cancer Serova (1997)
801728 BRCA2 G C -- Likely harmless variant (previously associated with Breast Cancer) Sanjose (2003)
801729 BRCA2 C A -- Likely harmless variant (previously associated with Breast Cancer) Sinilnikova (1999)
45184 BRCA1 C A CC Breast Cancer Aziz (2001), Easton (2007)
801822 BRCA2 G A GG Breast Cancer Bergthorsson (2001)
45110 BRCA1 G T GG Breast Cancer Weitzel (2005)
45114 BRCA1 G A GG Breast Cancer Balz (2002)
45118 BRCA1 G C GG Breast Cancer Kroiss (2005)
45220 BRCA1 C T CC Breast Cancer Osorio (2000), Easton (2007)
801825 BRCA2 G A GG Breast Cancer Hofmann (2003)
801826 BRCA2 A G AA Breast Cancer Scott (2003)
801827 BRCA2 G A GG Breast Cancer Agata (2003)
45323 BRCA1 C A CC Breast Cancer Choi (2004)
45324 BRCA1 C T CC Breast Cancer Osorio (2000)
45124 BRCA1 G C GG Breast Cancer Patmasiriwat (2002)
45126 BRCA1 T A TT Breast Cancer Li (2006)
45134 BRCA1 C A CC Breast Cancer Kang (2002)
801730 BRCA2 A G -- Likely harmless variant (previously associated with Breast Cancer) Sanjose (2003)
801731 BRCA2 G T -- Likely harmless variant (previously associated with Breast Cancer) Wagner (1999)
801732 BRCA2 C T -- Likely harmless variant (previously associated with Breast Cancer) Wagner (1999)
801828 BRCA2 G A GG Breast Cancer Scott (2003)
Dante Labs
801829 BRCA2 G T GG Breast Cancer Katagiri (1998)
801830 BRCA2 A G AA Breast Cancer Vehmanen (1997), Sarantaus (2000), Sarantaus (2000)
45351 BRCA1 C T CC Breast Cancer Petrij-Bosch (1997)
45365 BRCA1 T C TT Breast Cancer Peelen (1997), Easton (2007)
45135 BRCA1 C G CC Breast Cancer McKean-Cowdin (2005)
45137 BRCA1 A C AA Breast Cancer Kroiss (2005)
45141 BRCA1 G A GG Breast Cancer Schorge (2001)
801831 BRCA2 C T CC Breast Cancer Llort (2002)
801832 BRCA2 A G AA Breast Cancer Katagiri (1998)
801833 BRCA2 T G TT Breast Cancer Vehmanen (1997)
801733 BRCA2 C T -- Likely harmless variant (previously associated with Breast Cancer) Wagner (1999)
801734 BRCA2 A T -- Likely harmless variant (previously associated with Breast Cancer) Kim (2005)
801735 BRCA2 A G -- Likely harmless variant (previously associated with Breast Cancer) Serova-Sinilnikova (1997)
801834 BRCA2 G T GG Breast Cancer Schoumacher (2001)
801835 BRCA2 C T CC Breast Cancer Hadjisavvas (2004)
801836 BRCA2 C T CC Breast Cancer Infante (2006)
45376 BRCA1 T C TT Breast Cancer Hout (2006)

Simard (1994), Struewing (1995), Roa (1996), Bar-Sade (1997), Bar-Sade (1998), Bandera
70785 BRCA1 I D II Breast Cancer
(1998), Schorge (1998), Mew (2002), Buisson (2006), Oddoux (1996)
70786 BRCA1 D I DD Breast Cancer Simard (1994), Gayther (1997), Gorski (2000), Rios (2001)
45144 BRCA1 C A CC Breast Cancer Curci (2002)
45145 BRCA1 C A CC Breast Cancer Valarmathi (2004)
45156 BRCA1 G C -- Breast Cancer Abkevich (2004)
801837 BRCA2 C T CC Breast Cancer Maillet (2006)
Dante Labs
801838 BRCA2 C A CC Breast Cancer Meyer (2003)
801839 BRCA2 C T CC Breast Cancer Frank (1998)
801738 BRCA2 G T GG Breast Cancer Bergthorsson (2001)
45159 BRCA1 C A CC Breast Cancer Maillet (2006)
45164 BRCA1 G T GG Breast Cancer Meindl (2002)
45165 BRCA1 G A GG Breast Cancer Kang (2002)
801840 BRCA2 A G AA Breast Cancer Wagner (1999)
801841 BRCA2 A T AA Breast Cancer Hoya (2002)
801842 BRCA2 A T AA Breast Cancer Kang (2002)
70787 BRCA1 I D II Breast Cancer Simard (1994)
70788 BRCA1 I D II Breast Cancer Gayther (1997)
45169 BRCA1 T C TT Breast Cancer Hadjisavvas (2004)
45170 BRCA1 G A GG Breast Cancer Kroiss (2005)
801740 BRCA2 C G CC Breast Cancer der Hout (2006)
801843 BRCA2 T G TT Breast Cancer Sermijn (2004)
801844 BRCA2 G A GG Breast Cancer Lubinski (2004)
801845 BRCA2 C A CC Breast Cancer Lubinski (2004)
70789 BRCA1 I D II Breast Cancer Friedman (1994), Simard (1994)
70791 BRCA1 D I DD Breast Cancer Johannsson (1996), Bergman (2001)
Dante Labs
45187 BRCA1 C T -- Breast Cancer Weber (2004)
45188 BRCA1 C A CC Breast Cancer Schorge (2001)
70795 BRCA1 A C AA Breast Cancer Hansen (2008)
801846 BRCA2 C T CC Breast Cancer Rashid (2006)
801847 BRCA2 C T CC Breast Cancer Weitzel (2005)
801848 BRCA2 C T CC Breast Cancer Infante (2006)
102283 BRCA1 G A -- Harmless variant (previously associated with Breast Cancer) Barker (1996)
45197 BRCA1 C A CC Breast Cancer Meindl (2002)
45203 BRCA1 A G AA Breast Cancer Figge (2004)
45204 BRCA1 G A GG Breast Cancer Abkevich (2004)
801849 BRCA2 C A CC Breast Cancer Maillet (2006)
801850 BRCA2 T A TT Breast Cancer Rashid (2006)
801851 BRCA2 A T AA Breast Cancer Foretova (2004)
45206 BRCA1 C A -- Breast Cancer Figge (2004)
45208 BRCA1 G A GG Breast Cancer Abkevich (2004)
801852 BRCA2 T G TT Breast Cancer Lubinski (2004)
801853 BRCA2 C G CC Breast Cancer Matsuda (2002)
45214 BRCA1 C G CC Breast Cancer Abkevich (2004)
45216 BRCA1 G A GG Breast Cancer Abkevich (2004), Easton (2007)
800907 BRCA1 T C TT Breast Cancer
Dante Labs
800909 BRCA1 C A CC Breast Cancer
800911 BRCA1 G A GG Breast Cancer
801855 BRCA2 C T CC Breast Cancer Maillet (2006)
801856 BRCA2 T A TT Breast Cancer Santarosa (1999)
801857 BRCA2 T G TT Breast Cancer Lubinski (2004)
801743 BRCA2 T G TT Breast Cancer Thiffault (2004)
45217 BRCA1 C T CC Breast Cancer Rostagno (2003)
801858 BRCA2 G T GG Breast Cancer Hamann (2002)
801859 BRCA2 T C -- Breast Cancer Weber (2004)
801860 BRCA2 A C -- Breast Cancer Hadjisavvas (2004)
800913 BRCA1 C T CC Breast Cancer
45222 BRCA1 G A GG Breast Cancer Chenevix-Trench (2006)
45223 BRCA1 C A CC Breast Cancer Fricker (2000)
45226 BRCA1 C T CC Breast Cancer Diez (1999)
801745 BRCA2 G A GG Breast Cancer Couch (1996)
801746 BRCA2 C G CC Breast Cancer Katagiri (1998)
Dante Labs
801861 BRCA2 G T GG Breast Cancer Lubinski (2004)
801862 BRCA2 G A -- Breast Cancer Hadjisavvas (2004)
801863 BRCA2 C G CC Breast Cancer Gomez-Garcia (2005)
800851 BRCA2 C A CC Breast Cancer De Benedetti (1998), Reid (2005)
801864 BRCA2 C T CC Breast Cancer Hadjisavvas (2004)
45228 BRCA1 T G TT Breast Cancer Abkevich (2004)
45229 BRCA1 T A TT Breast Cancer Abkevich (2004)
801865 BRCA2 G T GG Breast Cancer Rashid (2006)
801866 BRCA2 T A TT Breast Cancer Hadjisavvas (2003)
44884 BRCA1 A G -- Harmless variant (previously associated with Breast Cancer) Han (2006)
44889 BRCA1 G T -- Harmless variant (previously associated with Breast Cancer) Shattuck-Eidens (1995)
44893 BRCA1 G A -- Harmless variant (previously associated with Breast Cancer) McKean-Cowdin (2005)
801868 BRCA2 C T CC Breast Cancer Phelan (2002)
801869 BRCA2 A T AA Breast Cancer Meindl (2002)
Dante Labs
801870 BRCA2 G T GG Breast Cancer Santarosa (1999)
801749 BRCA2 G A GG Breast Cancer Salazar (2006)
801750 BRCA2 A T AA Breast Cancer der Hout (2006)
44896 BRCA1 T C -- Harmless variant (previously associated with Breast Cancer) Friend (1995)
44910 BRCA1 C A -- Harmless variant (previously associated with Breast Cancer) Couch (1996), Sanjose (2002)
44921 BRCA1 C T -- Harmless variant (previously associated with Breast Cancer) Friedman (1994), Friedman (1994)
45240 BRCA1 T C TT Breast Cancer Rostagno (2003)
801871 BRCA2 A G -- Breast Cancer Fries (2002)
801873 BRCA2 A T AA Breast Cancer Marroni (2004)
44939 BRCA1 C T -- Harmless variant (previously associated with Breast Cancer) Schoumacher (2001)
44967 BRCA1 C A CC Breast Cancer Couch (1996)
44968 BRCA1 A G AA Breast Cancer Castilla (1994)
801751 BRCA2 C T -- Breast Cancer Salazar (2006)
801753 BRCA2 T G TT Breast Cancer Salazar (2006)
45248 BRCA1 C T CC Breast Cancer Gad (2002)
801874 BRCA2 C G CC Breast Cancer Hadjisavvas (2004)
801875 BRCA2 C T -- Breast Cancer Gao (2001)
Dante Labs
801876 BRCA2 C T CC Breast Cancer Fries (2002)
44969 BRCA1 G A GG Breast Cancer Adem (2003)
44973 BRCA1 T C -- Breast Cancer Castilla (1994)
801754 BRCA2 T A TT Breast Cancer Serova-Sinilnikova (1997)
801755 BRCA2 A G -- Breast Cancer Malone (2000)
45255 BRCA1 A G AA Breast Cancer Figge (2004)
45256 BRCA1 C A CC Breast Cancer Curci (2002)
801877 BRCA2 G A GG Breast Cancer Meindl (2002)
801878 BRCA2 T A TT Breast Cancer Lubinski (2004)
801879 BRCA2 G C GG Breast Cancer Chenevix-Trench (2006)
44980 BRCA1 C T CC Breast Cancer Santarosa (1998)
44990 BRCA1 A T AA Breast Cancer Inoue (1995)
45258 BRCA1 T A -- Breast Cancer Abkevich (2004)
45262 BRCA1 C T CC Breast Cancer Evans (2003)
801880 BRCA2 A T AA Breast Cancer Chenevix-Trench (2006)
801881 BRCA2 A T AA Breast Cancer Maillet (2006)
801882 BRCA2 C A CC Breast Cancer Sinilnikova (2006)
44992 BRCA1 A G AA Breast Cancer Caligo (1996)
44994 BRCA1 C T CC Breast Cancer Couch (1996)
45000 BRCA1 G A GG Breast Cancer Stoppa-Lyonnet (1997)
Dante Labs
45264 BRCA1 A G -- Breast Cancer Abkevich (2004)
801883 BRCA2 C T CC Breast Cancer Lubinski (2004)
801885 BRCA2 T C TT Breast Cancer Kanaan (2003)
45273 BRCA1 T G TT Breast Cancer Maillet (2006)
45275 BRCA1 A C AA Breast Cancer Figge (2004)
45003 BRCA1 C G CC Breast Cancer Pericay (2001)
45004 BRCA1 T G TT Breast Cancer Hedau (2004)
45005 BRCA1 A G AA Breast Cancer Hedau (2004)
45278 BRCA1 G C GG Breast Cancer Martinez-Ferrandis (2003)
45279 BRCA1 C T CC Breast Cancer Montagna (1996)
45009 BRCA1 G A -- Breast Cancer Hu (2003)
45010 BRCA1 T A TT Breast Cancer Caligo (1996)
45011 BRCA1 G A GG Breast Cancer Gayther (1995)
801889 BRCA2 C A CC Breast Cancer Diez (2003)
801890 BRCA2 C T CC Breast Cancer Sekine (2001)
801891 BRCA2 G T GG Breast Cancer Hoya (2002)
Dante Labs
45289 BRCA1 G A GG Breast Cancer Kroiss (2005)
45013 BRCA1 T C -- Breast Cancer Hamann (2003)
45015 BRCA1 A C AA Breast Cancer Sanjose (2003)
45016 BRCA1 G A GG Breast Cancer Hu (2003)
801892 BRCA2 C A CC Breast Cancer Lubinski (2004)
801894 BRCA2 C G CC Breast Cancer Naseem (2006)
45294 BRCA1 T G TT Breast Cancer Keaton (2003)
45295 BRCA1 C T CC Breast Cancer Evans (2003)
45298 BRCA1 C T CC Breast Cancer Bonatti (2006)
801895 BRCA2 A G AA Breast Cancer Bonatti (2006)
801896 BRCA2 G T GG Breast Cancer Meindl (2002)
801897 BRCA2 G C GG Breast Cancer NI consortium (2003)
45304 BRCA1 A C AA Breast Cancer NI consortium (2003)
45307 BRCA1 C T CC Breast Cancer Liede (2002)
45310 BRCA1 T C TT Breast Cancer Evans (2003)
801898 BRCA2 G A GG Breast Cancer Bonatti (2006)
801899 BRCA2 G T GG Breast Cancer Meyer (2003)
801900 BRCA2 T C TT Breast Cancer Diez (2003)
45313 BRCA1 T C -- Breast Cancer Gao (2001)
45314 BRCA1 T C TT Breast Cancer Meyer (2003)
Dante Labs
801901 BRCA2 G A GG Breast Cancer Wagner (1999)
801902 BRCA2 A G AA Breast Cancer Bonatti (2006)
801903 BRCA2 G A GG Breast Cancer Marroni (2004)
45328 BRCA1 C T CC Breast Cancer Campos (2003)
801904 BRCA2 G A GG Breast Cancer Peelen (2000)
801905 BRCA2 G A GG Breast Cancer Marroni (2004)
45334 BRCA1 C G CC Breast Cancer Kroiss (2005)
45336 BRCA1 C G CC Breast Cancer Hoya (2002)
45341 BRCA1 C T CC Breast Cancer Hoya (2001), Easton (2007)
45019 BRCA1 A C AA Breast Cancer der Hout (2006)
45020 BRCA1 C T CC Breast Cancer Emi (1998)
45021 BRCA1 C T CC Breast Cancer Sakayori (2003)
801907 BRCA2 G A GG Breast Cancer Claes (2003)
801908 BRCA2 A G AA Breast Cancer Wagner (1999)
801909 BRCA2 G A GG Breast Cancer Claes (2003)
45342 BRCA1 C G CC Breast Cancer Hoya (2002)
45344 BRCA1 A C AA Breast Cancer Meindl (2002)
45345 BRCA1 C T CC Breast Cancer Fricker (2000)
45025 BRCA1 C T CC Breast Cancer Hakansson (1997)
45026 BRCA1 T A TT Breast Cancer Kadouri (2004)
Dante Labs
801910 BRCA2 G T GG Breast Cancer Gomez-Garcia (2005)
801911 BRCA2 T A TT Breast Cancer Meindl (2002)
801912 BRCA2 G A GG Breast Cancer Evans (2003)
45348 BRCA1 T C TT Breast Cancer Campos (2003)
45354 BRCA1 C T CC Breast Cancer Ladopoulou (2002)
45358 BRCA1 T G TT Breast Cancer Phelan (2002)
45027 BRCA1 G A GG Breast Cancer der Hout (2006)
45028 BRCA1 G A GG Breast Cancer Zhou (2004)
45029 BRCA1 C T CC Breast Cancer Zhou (2004)
45739 BRCA2 A C -- Breast Cancer Campos (2003)
801699 BRCA2 G A -- Breast Cancer Han (2006)
45367 BRCA1 C G CC Breast Cancer Evans (2003)
45370 BRCA1 C T CC Breast Cancer Osorio (2003)
801700 BRCA2 A G AA Breast Cancer Sharp (2004)
801701 BRCA2 G A GG Breast Cancer Han (2006)
801702 BRCA2 A G AA Breast Cancer Plaschke (2000)
45032 BRCA1 A C -- Breast Cancer Couch (1996)
45373 BRCA1 C A CC Breast Cancer Evans (2003)
801704 BRCA2 T G TT Breast Cancer Han (2006)
Dante Labs
801705 BRCA2 C T CC Breast Cancer Kim (2005)
45034 BRCA1 T A TT Breast Cancer Garcia-Patino (1998)
45037 BRCA1 A T AA Breast Cancer Kadouri (2004)
45038 BRCA1 C A CC Breast Cancer Llort (2002)
801706 BRCA2 A G -- Breast Cancer Han (2006)
801707 BRCA2 A T AA Breast Cancer Han (2006)
801708 BRCA2 A C AA Breast Cancer Seo (2004)
45042 BRCA1 A C AA Breast Cancer Katagiri (1998)
801709 BRCA2 A G -- Breast Cancer Seo (2004)
801710 BRCA2 A C AA Breast Cancer Han (2006)
801711 BRCA2 A G AA Breast Cancer Choi (2004)
45045 BRCA1 A T AA Breast Cancer El-Harith (2002)
45046 BRCA1 C A CC Breast Cancer Zhi (2002)
45050 BRCA1 T A TT Breast Cancer Palmieri (2002)
801712 BRCA2 A G AA Breast Cancer Seo (2004)
801713 BRCA2 G A -- Breast Cancer Choi (2004)
801714 BRCA2 A C AA Breast Cancer Han (2006)
45052 BRCA1 G C GG Breast Cancer Garvin (1996)
45054 BRCA1 A C AA Breast Cancer Frost (2005)
801715 BRCA2 G T GG Breast Cancer Han (2006)
801716 BRCA2 T G TT Breast Cancer Han (2006)
Dante Labs
801717 BRCA2 C G CC Breast Cancer Han (2006)
45055 BRCA1 G A GG Breast Cancer Friedman (1995)
45056 BRCA1 G A GG Breast Cancer Eerola (2005)
45057 BRCA1 G A GG Breast Cancer Dong (1998)
801718 BRCA2 A G AA Breast Cancer Han (2006)
801720 BRCA2 T C TT Breast Cancer Han (2006)
45059 BRCA1 T G -- Breast Cancer El-Harith (2002)
45061 BRCA1 T C TT Breast Cancer Lee (2003)
45062 BRCA1 G A GG Breast Cancer Shattuck-Eidens (1995)
801721 BRCA2 A G -- Breast Cancer Yassaee (2002)
801722 BRCA2 T G TT Breast Cancer Yassaee (2002)
801723 BRCA2 T A TT Breast Cancer Sakayori (2003)
45068 BRCA1 T A TT Breast Cancer Loizidou (2007)
45071 BRCA1 A T AA Breast Cancer Gayther (1995)
801724 BRCA2 T G TT Breast Cancer Sakayori (2003)
801725 BRCA2 A C AA Breast Cancer Sanjose (2003)
45074 BRCA1 T C TT Breast Cancer Ozdag (2000)
45079 BRCA1 G A GG Breast Cancer Lee (2003)
45086 BRCA1 C A CC Breast Cancer Kadouri (2004)
45087 BRCA1 C A CC Breast Cancer Ramus (1997)
Dante Labs
45089 BRCA1 A G -- Breast Cancer Castilla (1994)
45090 BRCA1 G A GG Breast Cancer Hogervorst (1995)
45091 BRCA1 C A CC Breast Cancer Liede (1998)
45092 BRCA1 T C -- Breast Cancer Couch (1996)
45096 BRCA1 G A GG Breast Cancer Perkowska (2003)
45097 BRCA1 A G -- Breast Cancer Emi (1998)
45098 BRCA1 G A GG Breast Cancer Mote (2004)
45102 BRCA1 C A CC Breast Cancer Khoo (2000)
45105 BRCA1 G A GG Breast Cancer Llort (2002)
45106 BRCA1 C A CC Breast Cancer Serova (1996)
45107 BRCA1 T A TT Breast Cancer Chen (2003)
45113 BRCA1 A T AA Breast Cancer Tomka (2001)
45115 BRCA1 A C AA Breast Cancer Theodor (1998)
45116 BRCA1 G T GG Breast Cancer Scott (2003)
45120 BRCA1 G A GG Breast Cancer Katagiri (1998)
45127 BRCA1 A T AA Breast Cancer Gayther (1995)
45128 BRCA1 A C AA Breast Cancer Wagner (1998)
45129 BRCA1 G A GG Breast Cancer Gao (2000)
45133 BRCA1 A C AA Breast Cancer Scott (2003)
45136 BRCA1 G C GG Breast Cancer Plummer (1995)
Dante Labs
45142 BRCA1 G A GG Breast Cancer Emi (1998)
45146 BRCA1 A T AA Breast Cancer Ahn (2007)
45147 BRCA1 G A GG Breast Cancer Tartaglini (1998)
45151 BRCA1 C G CC Breast Cancer Xiaoman (1999)
45152 BRCA1 C A CC Breast Cancer Peelen (1997)
45154 BRCA1 C G -- Breast Cancer Durocher (1996)
45155 BRCA1 C A CC Breast Cancer Peelen (1997)
45160 BRCA1 G T GG Breast Cancer Vehmanen (1997)
45161 BRCA1 G A GG Breast Cancer Gallardo (2004)
45162 BRCA1 G A GG Breast Cancer Couch (1996)
45163 BRCA1 T C TT Breast Cancer Salazar (2006)
45166 BRCA1 G A GG Breast Cancer Shattuck-Eidens (1995)
45167 BRCA1 T C TT Breast Cancer Arnold (1999)
45168 BRCA1 G A GG Breast Cancer Miki (1994)
45171 BRCA1 A T AA Breast Cancer Sakayori (2003)
45173 BRCA1 G A GG Breast Cancer Langston (1996)
45174 BRCA1 G A GG Breast Cancer Cilotti (2002)
45177 BRCA1 G A GG Breast Cancer Dong (1998)
45178 BRCA1 G T GG Breast Cancer Cortesi (2002)
45181 BRCA1 G A GG Breast Cancer Rostagno (2003)
45183 BRCA1 C A CC Breast Cancer Eerola (2005)
Dante Labs
45185 BRCA1 G C GG Breast Cancer NI consortium (2003)
45189 BRCA1 G A GG Breast Cancer Ozcelik (2003)
45190 BRCA1 G A GG Breast Cancer Tartaglini (1998)
45191 BRCA1 C A CC Breast Cancer Futreal (1994)
45192 BRCA1 G A -- Breast Cancer Durocher (1996)
45193 BRCA1 G C GG Breast Cancer Serova (1996)
45194 BRCA1 A G -- Breast Cancer Panguluri (1999)
45198 BRCA1 G A GG Breast Cancer Laplace-Marieze (1997)
45199 BRCA1 T C -- Breast Cancer Fitzgerald (1996)
45201 BRCA1 T C -- Breast Cancer Durocher (1996)
45205 BRCA1 C A CC Breast Cancer Choi (2004)
45212 BRCA1 C A CC Breast Cancer Mazoyer (1998)
45215 BRCA1 A G AA Breast Cancer Bergthorsson (2001)
45221 BRCA1 C G CC Breast Cancer Scott (2003)
45224 BRCA1 C T CC Breast Cancer Ozcelik (2003)
45225 BRCA1 A G AA Breast Cancer Struewing (1995)
45230 BRCA1 C T CC Breast Cancer Dong (1998)
45232 BRCA1 C A CC Breast Cancer Merajver (1995)
45233 BRCA1 T A TT Breast Cancer Gayther (1995)
45234 BRCA1 A G AA Breast Cancer Valarmathi (2003)
45242 BRCA1 A C AA Breast Cancer Valarmathi (2003)
45244 BRCA1 T G TT Breast Cancer Valarmathi (2003)
Dante Labs
45245 BRCA1 C T CC Breast Cancer Lalloo (2006)
45246 BRCA1 G C GG Breast Cancer Gayther (1996)
45247 BRCA1 G C GG Breast Cancer Valarmathi (2003)
45250 BRCA1 G A GG Breast Cancer Vehmanen (1997)
45251 BRCA1 C G CC Breast Cancer Bergthorsson (2001)
45252 BRCA1 C T CC Breast Cancer Valarmathi (2003)
45254 BRCA1 G A GG Breast Cancer Stoppa-Lyonnet (1997)
45259 BRCA1 A C AA Breast Cancer Monteiro (1996), Glover (2003), Glover (2003)
45263 BRCA1 C T CC Breast Cancer Sobczak (1997)
45266 BRCA1 C A CC Breast Cancer Panguluri (1999)
45270 BRCA1 C A CC Breast Cancer Bonadona (2005)
45271 BRCA1 C A CC Breast Cancer Panguluri (1999)
45274 BRCA1 A G AA Breast Cancer Lee (2003)
45280 BRCA1 C T CC Breast Cancer Seo (2004)
45281 BRCA1 C A CC Breast Cancer der Hout (2006)
45282 BRCA1 G A GG Breast Cancer Serova (1996)
45283 BRCA1 C A CC Breast Cancer Llort (2002)
45284 BRCA1 A G AA Breast Cancer Montagna (1996)
45286 BRCA1 C T CC Breast Cancer Couch (1996)
45296 BRCA1 A C -- Breast Cancer Sharp (2004)
Dante Labs
45297 BRCA1 T C TT Breast Cancer Vehmanen (1997)
45299 BRCA1 C T CC Breast Cancer Gayther (1995)
45301 BRCA1 C T CC Breast Cancer Permuth-Way (2004), Easton (2007)
45302 BRCA1 A G AA Breast Cancer Parton (2002)
46621 MSH2 A T AA Colorectal Cancer Froggatt (1999), Desai (2000), Kurzawski (2006)
49682 MSH6 A T AA Colorectal Cancer Ohmiya (2001)
49741 MSH6 A G AA Colorectal Cancer Kolodner (1999)
49772 MSH6 A G AA Colorectal Cancer Kolodner (1999)
68137 8q24 G A GA Colorectal Cancer Tenesa (2008)
68143 8q23.3 A C AA Colorectal Cancer Tomlinson (2008), Pittman (2008)
102302 8q23.3 A C AA Colorectal Cancer Tomlinson (2008), Pittman (2008)
46118 APC C A CC Colorectal Cancer Zhou (2004)
46313 APC C T CC Colorectal Cancer Tan (2005)
48529 MLH1 C T CC Colorectal Cancer Wei (2003)
48630 MLH1 C T CC Colorectal Cancer Raevaara (2005)
49727 MSH6 C A CC Colorectal Cancer Okkels (2006)
49746 MSH6 C T CC Colorectal Cancer Kets (2006)
49754 MSH6 C T CC Colorectal Cancer Planck (1999)
49757 MSH6 C A CC Colorectal Cancer Kolodner (1999)
49766 MSH6 C T CC Colorectal Cancer Berends (2002)
49769 MSH6 C T CC Colorectal Cancer Plaschke (2006)
70899 MSH6 C T CC Colorectal Cancer Yan (2007)
71201 SMAD7 C T TT Colorectal Cancer Broderick (2007), Tomlinson (2008)
102309 8q24 T C CC Colorectal Cancer Haiman (2007)
Dante Labs
46116 APC G C GG Colorectal Cancer Frayling (1998), Fearnhead (2004)
46535 MSH2 G C GG Colorectal Cancer Yuan (1999), Foulkes (2002), Sun (2005), Lavie (2008)
48585 MLH1 G T GG Colorectal Cancer Kim (2001)
48649 MLH1 G A GG Colorectal Cancer Froggatt (1996), Lwiwski (2008)
48673 MLH1 G A GG Colorectal Cancer Ward (2002)
48709 MLH1 G A GG Colorectal Cancer Godino (2001)
48751 MLH1 G T GG Colorectal Cancer Barnetson (2006)

Haplotype:51232,
Zanke (2007), Broderick (2007), Tomlinso (2007), Tomlinson (2008), Tenesa (2008), Jaeger
102410 71201, 68149, 68143, GG-TT-CC-AA-AC-GG Colorectal Cancer
(2008), Middeldorp (2009)
68134, 68146
49671 MSH6 G T GG Colorectal Cancer Wu (1999)
49706 MSH6 G A GG Colorectal Cancer Plaschke (2004)
49710 MSH6 G T GG Colorectal Cancer Dovrat (2005)
49714 MSH6 G T GG Colorectal Cancer Kolodner (1999)
49743 MSH6 G A GG Colorectal Cancer Charames (2000)
49750 MSH6 G T GG Colorectal Cancer Vahteristo (2001)
51232 8q24 T G GG Colorectal Cancer Haiman (2007)
68146 10p14 G A GG Colorectal Cancer Tomlinson (2008), Pittman (2008)
70873 MLH1 G C GG Colorectal Cancer Pagenstecher (2006)
46095 APC T A TT Colorectal Cancer Laken (1997)
49716 MSH6 T C TT Colorectal Cancer Plaschke (2000)
70898 MSH6 T C TT Colorectal Cancer Yan (2007)
48468 MLH1 G A GG Colorectal Cancer Fidalgo (2000)
48738 MLH1 G A GG Colorectal Cancer Nystrom-Lahti (1995), Moisio (1996)
49081 MLH3 G A GG Colorectal Cancer Wu (2001)
49093 MLH3 C T CC Colorectal Cancer Wu (2001)

Dante Labs
49097 MLH3 T C TT Colorectal Cancer Wu (2001)
49098 MLH3 C T CC Colorectal Cancer Wu (2001)
49107 CTNNB1 A G AA Colorectal Cancer Fearnhead (2004)
68134 LOC120376 A C AC Colorectal Cancer Tenesa (2008), Pittman (2008)
68149 HMPS1 C T CC Colorectal Cancer Jaeger (2008), Pittman (2008)
70819 MSH2 I D II Colorectal Cancer Chan (2004)
2527 KCNE2 C T CC Atrial Fibrillation Yang (2004)
73757 4q25 C T CC Atrial Fibrillation Gudbjartsson (2007)
100822 KCNN3 C T CT Atrial Fibrillation Ellinor (2010)
6655 KCNJ2 G A GG Atrial Fibrillation Xia (2005)
100918 PITX2 A G AA Atrial Fibrillation Ellinor (2010)
102361 4q25 G T GG Atrial Fibrillation Gudbjartsson (2007)

Kluijtmans (1998), Clarke (1991), Loscalzo (1996), Tawakol (1997), Kuller (1998), Nygard
4236 MTHFR A C AA MTHFR Deficiency
(1999), Christen (2000)
Kluijtmans (1998), Clarke (1991), Loscalzo (1996), Tawakol (1997), Kuller (1998), Nygard
4245 MTHFR G A GG MTHFR Deficiency
(1999), Christen (2000)
Beckman (1987), Selzer (2003), Clarke (1991), Loscalzo (1996), Tawakol (1997), Kuller (1998),
4251 MTHFR C T CC MTHFR Deficiency
Nygard (1999), Christen (2000)
Frosst (1995), McAndrew (1996), Clarke (1991), Loscalzo (1996), Tawakol (1997), Kuller
4161 MTHFR G A GG MTHFR Deficiency
(1998), Nygard (1999), Christen (2000)
McPherson (2007), Shen (2007), Shen (2008), Abdullah (2008), Paynter (2009), Smith (2009),
800947 9p21 A G GG Coronary Artery Disease
Schaefer (2009), Ernst (2010), Xie (2011), Do (2011)
Sharpless (2006), McPherson (2007), Samani (2007), Consortium (2007), Helgadottir (2007),
800948 CDKN2A A G AA Coronary Artery Disease Shen (2007), Shen (2008), Zhou (2008), Wahlstrand (2009), Schaefer (2009), Ernst (2010), Lin
(2010), Wang (2011)
Samani (2007), Cunnington (2008), Cunnington (2009), Karvanen (2009), Coronary Artery
800974 2q36.3 A C CC Coronary Artery Disease
Disease Consortium (2009), Ghazouani (2010), Wang (2011)
Helgadottir (2007), Shen (2007), Helgadottir (2008), Shen (2008), Liu (2009), Lemmens
102494 CDKN2A A G GG Coronary Artery Disease (2009), Cluett (2009), Wahlstrand (2009), Silander (2009), Schaefer (2009), Ernst (2010),
Wang (2011), Koch (2011)
Samani (2007), Kathiresan (2008), Sandhu (2008), Willer (2008), Muendlein (2009), Karvanen
800975 PSRC1 G A GA Coronary Artery Disease (2009), Nakayama (2009), Coronary Artery Disease Consortium (2009), Kleber (2010), Ma
(2010), Musunuru (2010), Bressler (2010), Roder (2011), Wang (2011)
800839 KIF6 A G AA Coronary Artery Disease Iakoubova (2008), Shiffman (2008)
Dante Labs
4638 ITGB3 T C TT Coronary Artery Disease Newman (1989), Weiss (1995), Weiss (1996)
Van der Put (1998), Clarke (1991), Loscalzo (1996), Tawakol (1997), Kuller (1998), Nygard
4184 MTHFR T G TT Mild MTHFR Deficiency
(1999), Christen (2000)
5488 HSD11B2 C T CC Hypertension Wilson (1995), Obeyesekere (1995)
5481 HSD11B2 G A GG Hypertension Carvajal (2003), Mune (1995)
782 AGT A G AG Salt-Sensitive Hypertension Jeunemaitre (1992), Jeunemaitre (1992), Lifton (1993)
787 AGT A C AA Salt-Sensitive Hypertension Hixson (1995)
788 AGT G A GA Salt-Sensitive Hypertension Jeunemaitre (1992), Jeunemaitre (1992), Frossard (1998)
824 AGT C T CC Salt-Sensitive Hypertension Jain (2002)
826 AGT C T CC Salt-Sensitive Hypertension Inoue (1997), Neel (1962), Neel (1998)
73312 FADS2 C G CC Effect of Breastfeeding as a Baby on IQ Caspi (2007), Steer (2010), Martin (2011)
Dean (1990), Latham (1990), Gervais (1993), Bienvenu (1993), Kiesewetter (1993), White
56843 CFTR G A GG Congenital Bilateral Absence of Vas Deferens
(2001)
57060 CFTR T G TT Congenital Bilateral Absence of Vas Deferens Kobayashi (1990)
57482 CFTR C T CC Obstructive Azoospermia Casals (2002)
57166 CFTR G C GG Obstructive Azoospermia Mittre (2002)

Haplotype:57691,
111111 CC-AA Liver Disease Nukiwa (1986), Cox (1985)
57723
57691 PI C T CC Liver Disease Nukiwa (1986), Cox (1985)
57723 PI G A AA Liver Disease Nukiwa (1986), Cox (1985)

Enattah (2002), Poulter (2003), Mulcare (2004), Lewinsky (2005), Tishkoff (2007), Morales
16023 MCM6 G A AA Lactose Intolerance
(2011), Witas (2015), Lukito (2015), Hisham (2016)
16027 MCM6 C T TT Lactose Intolerance Enattah (2002), Bersaglieri (2004)
72353 MCM6 A C AA Lactose Intolerance Tishkoff (2007), Ingram (2007), Enattah (2008)
72356 MCM6 A G AA Lactose Intolerance Enattah (2008), Bryony (2013), Hisham (2016)
Ingram (2007), Tishkoff (2007), Enattah (2008), Ingram (2009), Torniainen (2009), Friedrich
800800 MCM6 G C GG Lactose Intolerance
(2012), Hisham (2016)
800801 MCM6 C G CC Lactose Intolerance Tishkoff (2007), Torniainen (2009), Friedrich (2012), Bryony (2013), Hisham (2016)
800802 MCM6 A C AA Lactose Intolerance Bryony (2013), Hisham (2016)
Dante Labs
Haplotype:16023,1602 Enattah (2002), Poulter (2003), Bersaglieri (2004), Mulcare (2004), Lewinsky (2005), Ingram
800803 MCM6 7,72353,72356,800800 AA-TT-AA-AA-GG-CC-AA Lactose Intolerance (2007), Tishkoff (2007), Enattah (2008), Ingram (2009), Torniainen (2009), Morales (2011),
,800801,800802 Friedrich (2012), Bryony (2013), Witas (2015), Lukito (2015), Hisham (20
20900 PROC A G AA Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20759 PROC C A CC Blood Clot Risk due to Protein C Deficiency Sakata (2000)
20813 PROC C T CC Blood Clot Risk due to Protein C Deficiency Reitsma (1991)
20825 PROC C T CC Blood Clot Risk due to Protein C Deficiency Conard (1992)
20872 PROC C T CC Blood Clot Risk due to Protein C Deficiency Romeo (1987), Grundy (1992)
20949 PROC C T CC Blood Clot Risk due to Protein C Deficiency Soria (1992), Tsuda (1991)
20726 PROC G A GG Blood Clot Risk due to Protein C Deficiency Grundy (1992), Soria (1992), Soria (1996)
20767 PROC G T GG Blood Clot Risk due to Protein C Deficiency Gaussem (1994)
20952 PROC G T GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20925 PROC T C TT Blood Clot Risk due to Protein C Deficiency Berg (1994)
20940 PROC T G TT Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20775 PROC A C AA Blood Clot Risk due to Protein C Deficiency Bovill (1992)
20775 PROC A C AA Blood Clot Risk due to Protein C Deficiency Bovill (1992)
20779 PROC G A GG Blood Clot Risk due to Protein C Deficiency Bovill (1992)
20832 PROC G C GG Blood Clot Risk due to Protein C Deficiency Lind (1993)
20839 PROC C T CC Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20752 PROC T C TT Blood Clot Risk due to Protein C Deficiency Zheng (1994)
20753 PROC A C AA Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20754 PROC T C TT Blood Clot Risk due to Protein C Deficiency Gandrille (1994)
20755 PROC T G TT Blood Clot Risk due to Protein C Deficiency Poort (1993)
20756 PROC G A GG Blood Clot Risk due to Protein C Deficiency Millar (1993)
20757 PROC G A GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
Dante Labs
20762 PROC C A CC Blood Clot Risk due to Protein C Deficiency Miyata (1995)
20764 PROC G A GG Blood Clot Risk due to Protein C Deficiency Gandrille (1993)
20765 PROC G T GG Blood Clot Risk due to Protein C Deficiency Simioni (2001)
20766 PROC G A GG Blood Clot Risk due to Protein C Deficiency Dodojacek (2000)
20769 PROC G A GG Blood Clot Risk due to Protein C Deficiency Faioni (2000)
20771 PROC T C TT Blood Clot Risk due to Protein C Deficiency Ireland (1996)
20773 PROC C G CC Blood Clot Risk due to Protein C Deficiency Mimuro (1993)
20777 PROC G C GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20778 PROC G A GG Blood Clot Risk due to Protein C Deficiency Ido (1993)
20780 PROC A G AA Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20781 PROC C A CC Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20782 PROC G A GG Blood Clot Risk due to Protein C Deficiency Taliani (2001)
20783 PROC G T GG Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20784 PROC C T CC Blood Clot Risk due to Protein C Deficiency Sorria (1994)
20786 PROC C T CC Blood Clot Risk due to Protein C Deficiency Ireland (1996)
Dante Labs
20788 PROC C G CC Blood Clot Risk due to Protein C Deficiency Zhou (2006)
20789 PROC C A CC Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20790 PROC C G CC Blood Clot Risk due to Protein C Deficiency Millar (2000)
20795 PROC T C TT Blood Clot Risk due to Protein C Deficiency Reitsma (1991)
20796 PROC T G TT Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20797 PROC C G CC Blood Clot Risk due to Protein C Deficiency Taliani (2001)
20798 PROC G C GG Blood Clot Risk due to Protein C Deficiency Miyata (1996)
20799 PROC G T GG Blood Clot Risk due to Protein C Deficiency Singh (2000)
20802 PROC C A CC Blood Clot Risk due to Protein C Deficiency Ireland (1996)
20803 PROC G C GG Blood Clot Risk due to Protein C Deficiency Tsay (1993)
20806 PROC A C AA Blood Clot Risk due to Protein C Deficiency Hasstedt (1998)
20807 PROC G A GG Blood Clot Risk due to Protein C Deficiency Ireland (1996)
Dante Labs
20810 PROC C G CC Blood Clot Risk due to Protein C Deficiency Reitsma (1991)
20811 PROC A G AA Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20812 PROC G T GG Blood Clot Risk due to Protein C Deficiency Ireland (1996)
20815 PROC G C GG Blood Clot Risk due to Protein C Deficiency Dreyfus (1991)
20816 PROC T C TT Blood Clot Risk due to Protein C Deficiency Hernandez (1995)
20817 PROC T G TT Blood Clot Risk due to Protein C Deficiency Miyata (1996)
20818 PROC G A GG Blood Clot Risk due to Protein C Deficiency Hernandez (1995)
20819 PROC T C TT Blood Clot Risk due to Protein C Deficiency Reitsma (1991)
20820 PROC G T GG Blood Clot Risk due to Protein C Deficiency Sakata (2000)
20821 PROC G A GG Blood Clot Risk due to Protein C Deficiency Tsay (1993)
20824 PROC C T CC Blood Clot Risk due to Protein C Deficiency Nakagawa (1994)
20826 PROC G A GG Blood Clot Risk due to Protein C Deficiency Poort (1993)
20827 PROC C T CC Blood Clot Risk due to Protein C Deficiency Foster (1985), Grundy (1989)
20828 PROC G A GG Blood Clot Risk due to Protein C Deficiency David (2000)
20829 PROC C T CC Blood Clot Risk due to Protein C Deficiency Hallam (1995)
20830 PROC G C GG Blood Clot Risk due to Protein C Deficiency Millar (1995)
20831 PROC A G AA Blood Clot Risk due to Protein C Deficiency Lind (2002)
20833 PROC T A TT Blood Clot Risk due to Protein C Deficiency Thomas (2002)
Dante Labs
20837 PROC T C TT Blood Clot Risk due to Protein C Deficiency Tsay (1993)
20838 PROC C T CC Blood Clot Risk due to Protein C Deficiency Poort (1993)
20841 PROC C A CC Blood Clot Risk due to Protein C Deficiency Poort (1993)
20849 PROC C T CC Blood Clot Risk due to Protein C Deficiency Grundy (1992)
20850 PROC A T AA Blood Clot Risk due to Protein C Deficiency Hallam (1998)
20852 PROC C T CC Blood Clot Risk due to Protein C Deficiency David (2000)
20853 PROC A G AA Blood Clot Risk due to Protein C Deficiency Allaart (1993)
20855 PROC C T CC Blood Clot Risk due to Protein C Deficiency Tuddenham (1989)
20856 PROC G A GG Blood Clot Risk due to Protein C Deficiency Conard (1992)
20858 PROC C T CC Blood Clot Risk due to Protein C Deficiency Reitsma (1995), Lind (2001)
20860 PROC G A GG Blood Clot Risk due to Protein C Deficiency Doig (1994)
Dante Labs
20862 PROC G A GG Blood Clot Risk due to Protein C Deficiency Long (1994)
20865 PROC G A GG Blood Clot Risk due to Protein C Deficiency Yamamoto (1992)
20866 PROC G C GG Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20869 PROC C T CC Blood Clot Risk due to Protein C Deficiency Tsay (1993)
20871 PROC G A GG Blood Clot Risk due to Protein C Deficiency Conard (1992)
20876 PROC A T AA Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20878 PROC C T CC Blood Clot Risk due to Protein C Deficiency Lind (1995)
20879 PROC A C AA Blood Clot Risk due to Protein C Deficiency Simioni (1996)
20880 PROC T C TT Blood Clot Risk due to Protein C Deficiency Sugahara (1994)
20881 PROC A G AA Blood Clot Risk due to Protein C Deficiency Ireland (1996)
20883 PROC T C TT Blood Clot Risk due to Protein C Deficiency Taliani (2001)
20884 PROC A G AA Blood Clot Risk due to Protein C Deficiency Sakata (2000)
Dante Labs
20889 PROC G C GG Blood Clot Risk due to Protein C Deficiency Millar (2000)
20890 PROC G A GG Blood Clot Risk due to Protein C Deficiency Zheng (1994)
20891 PROC C T CC Blood Clot Risk due to Protein C Deficiency Doig (1994)
20892 PROC C T CC Blood Clot Risk due to Protein C Deficiency Hallam (1998)
20893 PROC G A GG Blood Clot Risk due to Protein C Deficiency Zheng (1994)
20894 PROC G C GG Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20896 PROC C G CC Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20897 PROC G A GG Blood Clot Risk due to Protein C Deficiency Miyata (1994)
20898 PROC T C TT Blood Clot Risk due to Protein C Deficiency Miyata (1996)
20901 PROC G A GG Blood Clot Risk due to Protein C Deficiency Sukahara (1992)
20902 PROC T G TT Blood Clot Risk due to Protein C Deficiency Millar (2000)
20904 PROC G A GG Blood Clot Risk due to Protein C Deficiency Marchetti (1993)
20907 PROC G A GG Blood Clot Risk due to Protein C Deficiency Tsay (1993)
20909 PROC C T CC Blood Clot Risk due to Protein C Deficiency Miyata (1996)
20912 PROC T A TT Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20913 PROC T C TT Blood Clot Risk due to Protein C Deficiency Ireland (1996)
Dante Labs
20914 PROC T G TT Blood Clot Risk due to Protein C Deficiency Monagle (1998)
20916 PROC A C AA Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20918 PROC T C TT Blood Clot Risk due to Protein C Deficiency Zheng (1994)
20919 PROC G C GG Blood Clot Risk due to Protein C Deficiency Romeo (1987)
20920 PROC C G CC Blood Clot Risk due to Protein C Deficiency Gandrille (1993)
20921 PROC A C AA Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20922 PROC T A TT Blood Clot Risk due to Protein C Deficiency Poort (1993)
20923 PROC A G AA Blood Clot Risk due to Protein C Deficiency Millar (2000)
20924 PROC A G AA Blood Clot Risk due to Protein C Deficiency Tsay (1993)
20927 PROC A C AA Blood Clot Risk due to Protein C Deficiency Sakata (2000)
20926 PROC C T CC Blood Clot Risk due to Protein C Deficiency Tsay (1993)
20928 PROC G A GG Blood Clot Risk due to Protein C Deficiency Sakata (2000)
20930 PROC G A GG Blood Clot Risk due to Protein C Deficiency Soria (1994)
20931 PROC C T CC Blood Clot Risk due to Protein C Deficiency Tait (1995)
20932 PROC G C GG Blood Clot Risk due to Protein C Deficiency Soria (1994)
20934 PROC C T CC Blood Clot Risk due to Protein C Deficiency Hayashida (2003)
20939 PROC G A GG Blood Clot Risk due to Protein C Deficiency Miyata (1996)
Dante Labs
20942 PROC T G TT Blood Clot Risk due to Protein C Deficiency Millar (2000)
20943 PROC A G AA Blood Clot Risk due to Protein C Deficiency Soria (1993)
20944 PROC G A GG Blood Clot Risk due to Protein C Deficiency Taliani (2001)
20948 PROC G C GG Blood Clot Risk due to Protein C Deficiency Sakata (2000)
20877 PROC T C TT Blood Clot Risk due to Protein C Deficiency Witt (1994)
21201 PROS1 A T AA Protein S Deficiency Biguzzi (2005)
21202 PROS1 A G AA Protein S Deficiency Formstone (1995)
21203 PROS1 C G CC Protein S Deficiency Mustafa (1995)
21204 PROS1 A C AA Protein S Deficiency Makris (2000)
21206 PROS1 T C TT Protein S Deficiency Tsuda (2002)
21207 PROS1 A T AA Protein S Deficiency Simmonds (1996)
21193 PROS1 G C GG Protein S deficiency Espinosa-Parrilla (1999)
801242 PROS1 G C GG Protein S deficiency Espinosa-Parrilla (1999)
21063 PROS1 G A GG Protein S deficiency Mustafa (1995)
21208 PROS1 C T CC Protein S Deficiency Biguzzi (2005)
21210 PROS1 C A CC Protein S Deficiency Bustorff (1997)
21211 PROS1 A G AA Protein S Deficiency Espinosa-Parrilla (2000)
Dante Labs
21212 PROS1 A C AA Protein S Deficiency Li (1996)
21213 PROS1 T G TT Protein S Deficiency Rezende (2001)
21078 PROS1 G A GG Protein S deficiency Gandrille (1995)
21090 PROS1 A T AA Protein S Deficiency Espinosa-Parrilla (2000)
21091 PROS1 A T AA Protein S Deficiency Rezende (2001)
21092 PROS1 G C GG Protein S Deficiency Hermida (1999)
21214 PROS1 G T GG Protein S Deficiency Hermida (1999)
21215 PROS1 G A GG Protein S Deficiency Beauchamp (1996)
21216 PROS1 A G AA Protein S Deficiency Duchemin (1996)
21093 PROS1 G A GG Protein S Deficiency Gandrille (1997)
21094 PROS1 C A CC Protein S Deficiency Gandrille (1995)
21095 PROS1 C T CC Protein S Deficiency Gandrille (1995)
21217 PROS1 G A GG Protein S Deficiency Espinosa-Parrilla (2000)
21220 PROS1 G C GG Protein S Deficiency Espinosa-Parrilla (2000)
21222 PROS1 C G CC Protein S Deficiency Tatewaki (1999)
21096 PROS1 C A CC Protein S Deficiency Pugliese (1999)
21097 PROS1 T C TT Protein S Deficiency Simmonds (1996)
21098 PROS1 C T CC Protein S Deficiency Rezende (2002)
21223 PROS1 T C TT Protein S Deficiency Li (1996)
21224 PROS1 T C TT Protein S Deficiency Makris (2000)
21100 PROS1 G T GG Protein S Deficiency Gandrille (1995)
21101 PROS1 T G TT Protein S Deficiency Gandrille (1995)
Dante Labs
21226 PROS1 T G TT Protein S Deficiency Simmonds (1996)
21227 PROS1 C T CC Protein S Deficiency Formstone (1995)
21230 PROS1 C A CC Protein S Deficiency Makris (2000)
21103 PROS1 A C AA Protein S Deficiency Gandrille (1995)
21231 PROS1 A T AA Protein S Deficiency Iida (2001)
21232 PROS1 T C TT Protein S Deficiency Nakahara (2001)
21233 PROS1 C A CC Protein S Deficiency Yamazaki (1997)
21106 PROS1 G A GG Protein S Deficiency Rezende (2001)
21107 PROS1 C T CC Protein S Deficiency Simmonds (1996)
21234 PROS1 C T CC Protein S Deficiency D'Andrea (2003)
21235 PROS1 T C TT Protein S Deficiency Mustafa (1997)
21109 PROS1 G A GG Protein S Deficiency Boinot (2003)
21110 PROS1 G C GG Protein S Deficiency Okamoto (1996)
21237 PROS1 C G CC Protein S Deficiency Yamazaki (1997)
21238 PROS1 C T CC Protein S Deficiency Formstone (1995)
21240 PROS1 T A TT Protein S Deficiency Mizukami (2006)
21241 PROS1 T A TT Protein S Deficiency Gandrille (1997)
21145 PROS1 G A GG Blood Clot Risk due to Protein S Deficiency Espinosa-Parrilla (1999)
Dante Labs
21111 PROS1 T G TT Protein S Deficiency Borgel (1996)
21112 PROS1 C T CC Protein S Deficiency Okada (2004)
21113 PROS1 T C TT Protein S Deficiency Hermida (1999)
801241 PROS1 G A GG Blood Clot Risk due to Protein S Deficiency Espinosa-Parrilla (1999)
21181 PROS1 A G AA Blood Clot Risk due to Protein S Deficiency Bertina (1990), Schwarz (1989), Beauchamp (2004)
21219 PROS1 T A TT Blood Clot Risk due to Protein S Deficiency Reitsma (1994)
21228 PROS1 C T CC Blood Clot Risk due to Protein S Deficiency Reitsma (1994)
21114 PROS1 C A CC Protein S Deficiency Espinosa-Parrilla (2000)
21117 PROS1 C A CC Protein S Deficiency Andersen (2001)
21118 PROS1 G A GG Protein S Deficiency Biguzzi (2005)
21119 PROS1 C A CC Protein S Deficiency Borgel (2001)
21120 PROS1 T C TT Protein S Deficiency Borgel (1996)
21122 PROS1 A C AA Protein S Deficiency Borgel (1996)
21123 PROS1 C A CC Protein S Deficiency Hermida (1999)
21124 PROS1 C T CC Protein S Deficiency Beauchamp (1996)
21125 PROS1 T C TT Protein S Deficiency Hayashi (1994)
21126 PROS1 T C TT Protein S Deficiency Biguzzi (2005)
21127 PROS1 A T AA Protein S Deficiency Borgel (2001)
21129 PROS1 A T AA Protein S Deficiency Borgel (1996)
21130 PROS1 G T GG Protein S Deficiency Borgel (2001)
21131 PROS1 C G CC Protein S Deficiency Simmonds (1996)
Dante Labs
21133 PROS1 C T CC Protein S Deficiency Iwaki (2001)
21134 PROS1 T C TT Protein S Deficiency Gandrille (1995)
21135 PROS1 A G AA Protein S Deficiency Borgel (2001)
21136 PROS1 A C AA Protein S Deficiency Makris (2000)
21139 PROS1 C A CC Protein S Deficiency Okada (2004)
21140 PROS1 T C TT Protein S Deficiency Cooper (1993)
21229 PROS1 T C TT Blood Clot Risk due to Protein S Deficiency Beauchamp (1998)
21141 PROS1 G C GG Protein S Deficiency Gandrille (1995)
21142 PROS1 A G AA Protein S Deficiency Gandrille (1995)
21143 PROS1 T C TT Protein S Deficiency Biguzzi (2005)
21144 PROS1 C G CC Protein S Deficiency Biguzzi (2005)
21147 PROS1 G T GG Protein S Deficiency Biguzzi (2005)
21148 PROS1 A G AA Protein S Deficiency Duchemin (1996)
21149 PROS1 G A GG Protein S Deficiency Okada (2006)
21150 PROS1 A G AA Protein S Deficiency Simmonds (1996)
21151 PROS1 C T CC Protein S Deficiency Borgel (2001)
21152 PROS1 G C GG Protein S Deficiency Espinosa (1999)
21155 PROS1 C A CC Protein S Deficiency Simmonds (1997)
21156 PROS1 A G AA Protein S Deficiency Iwaki (2001)
21157 PROS1 C A CC Protein S Deficiency Hayashida (2003)
21158 PROS1 A G AA Protein S Deficiency Mustafa (1995)
Dante Labs
21159 PROS1 C T CC Protein S Deficiency Okada (2004)
21162 PROS1 C A CC Protein S Deficiency Liu (2001)
21164 PROS1 C T CC Protein S Deficiency Simmonds (1996)
21165 PROS1 C A CC Protein S Deficiency Gomez (1995)
21166 PROS1 A G AA Protein S Deficiency Andersen (2001)
21168 PROS1 C T CC Protein S Deficiency Andersen (2001)
21169 PROS1 T A TT Protein S Deficiency Simmonds (1996)
21170 PROS1 G T GG Protein S Deficiency Okada (2006)
21171 PROS1 T A TT Protein S Deficiency Iwaki (2001)
21174 PROS1 A T AA Protein S Deficiency Simmonds (1996)
21177 PROS1 T C TT Protein S Deficiency Gandrille (1997)
21178 PROS1 C A CC Protein S Deficiency Formstone (1995)
21180 PROS1 C A CC Protein S Deficiency Okada (2006)
21183 PROS1 C T CC Protein S Deficiency Bustorff (1997)
21184 PROS1 A C AA Protein S Deficiency Gomez (1995)
Dante Labs
21186 PROS1 C G CC Protein S Deficiency Hermida (1999)
21187 PROS1 G A GG Protein S Deficiency Yamazaki (1996)
21189 PROS1 C G CC Protein S Deficiency Borgel (1996)
21190 PROS1 A G AA Protein S Deficiency Andersen (2001)
21192 PROS1 A G AA Protein S Deficiency Mustafa (1995)
21195 PROS1 T A TT Protein S Deficiency Hermida (1999)
21196 PROS1 G A GG Protein S Deficiency Yamazaki (1995)
21199 PROS1 A T AA Protein S Deficiency Mustafa (1995)
19582 SERPINC1 C G CC Blood Clot Risk due to Antithrombin III Deficiency Carrell (1989), Caso (1991), Pewarchuk (1990)
19583 SERPINC1 A T AA Blood Clot Risk due to Antithrombin III Deficiency Brennan (1988), Carrell (1989)
19587 SERPINC1 A G AA Blood Clot Risk due to Antithrombin III Deficiency Fitches (1998)
19597 SERPINC1 G A GG Blood Clot Risk due to Antithrombin III Deficiency Tran (1986), Molho-Sabatier (1989), Carrell (1989), Roux (1990)
Koide (1984), Duchange (1986), Sakuragawa (1983), Fischer (1986), Brunel (1987), Carrell
19601 SERPINC1 G A GG Blood Clot Risk due to Antithrombin III Deficiency
(1989)
19610 SERPINC1 C T CC Blood Clot Risk due to Antithrombin III Deficiency Fitches (2001)
19630 SERPINC1 G A GG Blood Clot Risk due to Antithrombin III Deficiency Gandrille (1991), Olds (1991)
19699 SERPINC1 G A GG Blood Clot Risk due to Antithrombin III Deficiency Olds (1992)
21706 F11 G T GG Factor XI Deficiency Asakai (1989), Asakai (1991)
21693 F11 T C TT Factor XI Deficiency Bauduer (1999), Zivelin (2002)
21736 F11 T C TT Factor XI Deficiency Asakai (1989), Asakai (1991), Meijers (1992)
Dante Labs
18257 VWF T C TT Bleeding Disorder – Von Willebrand Disease, Type 1 O'Brien (2003)
18515 VWF T G TT Bleeding Disorder – Von Willebrand Disease, Type 1 O'Brien (2003)
18350 VWF G A GG Bleeding Disorder – Von Willebrand Disease, Type 2B Randi (1991), Cooney (1991), Donner (1992)
18355 VWF G A GG Bleeding Disorder – Von Willebrand Disease, Type 2B Randi (1991), Cooney (1991), Donner (1992), Donner (1991)
18366 VWF C T CC Bleeding Disorder – Von Willebrand Disease, Type 2B Randi (1991), Cooney (1991), Donner (1992), Murray (1992)
18372 VWF C T CC Bleeding Disorder – Von Willebrand Disease, Type 2B Cooney (1991)
18238 VWF C T CC Bleeding Disorder – Von Willebrand Disease, Type 2M Zieger (1997), Randi (1993), Schneppenheim (2000)
21573 HFE C G CC Hemochromatosis Feder (1996), Tomatsu (2003)
20602 HFE2 G T GG Hemochromatosis Papanikolaou (2004), Lee (2004), Rivard (2003), Lanzara (2004), Gehrke (2005)
21561 HFE G A GG Hemochromatosis Feder (1996), Andersen (2004), Malins (1978), Peterlin (2003)
21603 HFE G A GG Hemochromatosis Piperno (2000)

Huisman (1960), Kingma (1961), Frick (1962), Rieder (1965), Dickerman (1973), Dlott (1983),
20083 HBB T C TT Drug-induced Hemolysis
Virshup (1983), Miranda (1994), Aguinaga (1998), Zinkham (1979)
21623 TPI1 G C GG Hemolytic Anemia due to Triosephosphate Isomerase Deficiency Daar (1986), Chang (1993), Pekrun (1995), Arya (1997)
4226 MTHFR C T CC Homocystinuria Goyette (1994)
4241 MTHFR C T CC Homocystinuria Sibani (2000)
3167 KCNE1 T C TC Noise-induced Hearing Loss van Laer (2006), Pawelczyk (2009)
26307 KCNQ4 T G TT Noise-induced Hearing Loss van Laer (2006), Pawelczyk (2009)
3153 KCNE1 C T CC Noise-induced Hearing Loss van Laer (2006)
100620 HSPA1L G A GG Noise-induced Hearing Loss Yang (2006), Koning (2009)
19529 ADAMTS13 C T CC Thrombotic Thrombocytopenic Purpura Levy (2001), Pimanda (2004)
56748 CFTR G C GG Idiopathic Pancreatitis Lira (2000), Scotet (2001), Kabra (2000), Derichs (2005), Conklin (2008)
102496 CDKN2A A G GG Brain Aneurysm Helgadottir (2007), Helgadottir (2008)
101890 ANIB6 C T TT Brain Aneurysm Bilguvar, (2008)
101889 CDKN2A G A GA Brain Aneurysm Bilguvar, (2008)
Dante Labs
Dean (1996), Samson (1996), Huang (1996), Liu (1996), Ansari -Lari (1997), Meyer (1997),
Haplotype:25106,
800978 CCR5 II-GG Resistance to HIV Infection Eugen-Olsen (1997), Martinson (1997), Zimmerman (1997), Biti (1997), Libert (1998), Husain
72006
(1998), Lucotte (1998), Alvarez (1998), Stephens (1998), Sullivan (2001), Ha
72006 CCR5 G A GG Resistance to HIV Infection Martinson (1997)
Dean (1996), Samson (1996), Huang (1996), Liu (1996), Ansari -Lari (1997), Meyer (1997),
25106 CCR5 I D II Resistance to HIV Infection Eugen-Olsen (1997), Martinson (1997), Zimmerman (1997), Biti (1997), Libert (1998), Husain
(1998), Lucotte (1998), Alvarez (1998), Stephens (1998), Sullivan (2001), Ha
Haplotype:801004,
102408 CCR5 II-GG Susceptibility to West Nile Virus Glass (2006), Lim (2006)
72006
72006 CCR5 G A GG Susceptibility to West Nile Virus Glass (2006), Lim (2006)
801004 CCR5 I D II Susceptibility to West Nile Virus Glass (2006), Lim (2006)
100589 G6PD I D I Recurrent Bacterial Infections van Bruggen (2002)
57697 PI C T CC Alpha-1-Antitrypsin Deficiency Holmes (1990)
57713 PI C T CC Alpha-1-Antitrypsin Deficiency Curiel (1990)
57736 PI G A GG Alpha-1-Antitrypsin Deficiency Lovegrove (1997)
57737 PI C T CC Alpha-1-Antitrypsin Deficiency Nakamura (1980), Matsunaga (1990)
57740 PI C T CC Alpha-1-Antitrypsin Deficiency Lodewyckx (2001)
57743 PI A C AA Alpha-1-Antitrypsin Deficiency Owen (1983)
58585 PLA2G7 A G GG Asthma and Atopy Kruse (2000), Ninio (2004)
100605 ADAM33 C T TT Asthma Reijmerink (2009), Tripathi (2011), Awasthi (2011), Klaassen (2011)
100607 ADAM33 G A GG Asthma Van Eerdewegh (2002), Howard (2003), Reijmerink (2009)
57733 PI G T GG Asthma Mahadeva (2000)
57466 CFTR C A CC Bronchiectasis Girodon (2003)
57748 PI C T CC Chronic Respiratory Disease Kalsheker (1987), Poller (1990), Morgan (1993)
Haplotype:57691,
102493 CC-AA Emphysema Nukiwa (1986), Cox (1985)
57723
57719 PI C T CC Emphysema Graham (1990)
57789 BMPR2 C T CC Primary Pulmonary Hypertension Thomson (2000), Machado (2001), Humbert (2002)
57799 BMPR2 C T CC Primary Pulmonary Hypertension Thomson (2000), Machado (2001)
Dante Labs
57783 BMPR2 T A TT Primary Pulmonary Hypertension Machado (2001)
7042 CRP G T TT Hand Arthritis Carlson (2005), Bos (2008)
59475 MATN3 G A GG Hand Arthritis Stefansson (2003), Pullig (2007)
101568 IL1B C T CT Hand Arthritis Moxley (2007), Solovieva (2009)
69957 CALM1 C T TT Hip Arthritis Mototani (2005), Loughlin (2006), Poulou (2008), Shi (2008)
800960 GDF5 G A GA Hip Arthritis Miyamoto (2007), Evangelou (2009)
29921 DVWA A T CC Knee Arthritis Miyamoto (2008)
71674 SERPINA3 A G GG Knee Arthritis Valdes (2008)
59997 GDF5 G A GA Knee Arthritis Miyamoto (2007), Evangelou (2009)
69994 LRCH1 G A GA Knee Arthritis Spector (2006), Valdes (2008)
71249 PTGS2 A G AA Knee Arthritis Valdes (2008)
33998 COL1A2 G A GG Osteoporosis Spotila (1991), Spotila (1992), Nuytinck (1996)

Wynne (2002), Ohmori (2002), Zhao (2005), Choi (2005), Arko (2005), Langdahl (2008),
34171 TNFRSF11B G C GG Osteoporosis
García-Unzueta (2008)
69953 ZBTB40 T G TG Osteoporosis Styrkarsdottir (2008), Liu (2010)
70008 GATAD2B G A GA Osteoporosis Koller (2000), Econs (2004), Ichikawa (2008)
69954 C6orf10 C T TT Osteoporosis Styrkarsdottir (2008)
70004 ARHGEF3 A G AA Osteoporosis Marshall (1996), Mullin (2008)
69951 ESR1 A G AG Osteoporosis Styrkarsdottir (2008)
69952 ZBTB40 G A GA Osteoporosis Styrkarsdottir (2008), Styrkarsdottir (2009), Rivadeneira (2009), Liu (2010)
Richards (2008), Styrkarsdottir (2008), van Meurs (2008), Tran (2008), Kurk (2009), Jiang
34575 LRP5 C T CC Osteoporosis
(2010), Zhang (2010)
Grant (1996), Uitterlinden (1998), Sainz (1999), Uitterlinden (2001), Lohmueller (2003),
35811 COL1A1 C A CC Osteoporosis
Ralston (2010), Jin (2011)
55419 ITPA A C AA Mercaptopurine and Azathioprine Adverse Reactions due to ITPA Sumi (2002)
55417 ITPA C A CC Mercaptopurine and Azathioprine Adverse Reactions due to ITPA Sumi (2002), Cao (2002)
55420 ITPA T C TT Mercaptopurine and Azathioprine Adverse Reactions due to ITPA Shipkova (2006)
Dante Labs
Disseminated Infection with Mycobacterium avium and Salmonella
73035 IL12RB1 T C TT Altare (1998), Akahoshi (2003), Park (2008)
enteritidis
Kim (2003), Bufe (2005), Sandell (2006), Pemberton (2009), Duffy (2010), Mennella (2011),
Haplotype:411, 412,
413 TAS2R38 CC-AA-TT Bitterness Taster vs Non-taster Carrai (2011), Hayes (2012), Keller (2013), Garneau (2014), Tepper (2014), Hoppu (2015),
414
Boxer (2015)
Kim (2003), Bufe (2005), Pemberton (2009), Mennella (2011), Carrai (2011), Garneau (2014),
411 TAS2R38 C G CC Bitterness Taster vs Non-taster
Boxer (2015)
412 TAS2R38 G A AA Bitterness Taster vs Non-taster
Boxer (2015)
414 TAS2R38 T C TT Bitterness Taster vs Non-taster
Boxer (2015)
Lunghi (1996), Castaman (1997), Bernardi (1997), Alhenc-Gelas (1999), Faioni (1999), Akar
18841 F5 T C TT Blood Clot Risk due to Factor V R2
(2000), Castoldi (2000), Ruiz‐Argüelles (2005), Spector (2005), Guella (2007)
18847 F5 T C TT Blood Clot Risk due to Factor V Hong Kong Chan (1998), Liang (1998)
Haplotype:800886,
102507 F5 CC-TT Blood Clot Risk due to both Factor V Leiden and Factor V R2 Spector (2005)
18841
18862 F5 G A GG Bleeding Risk due to Severe Factor V Deficiency (R1133X) van Wijk (2001)
18943 F2 C T CC Bleeding Risk due to Prothrombin Deficiency (Quick I) Quick (1955), Quick (1962), Mann (1988), MacGillivray (1992)
18930 F2 C T CC Bleeding Risk due to Prothrombin Deficiency (Barcelona) Rabiet (1986)
18866 F5 T C TT Bleeding Risk due to Factor V Deficiency (Factor V Soul-2) van Wijk (2001), Castoldi (2000)
800887 F2 G A GG Blood Clot Risk due to Prothrombin 20210 Poort (1996), Rosendaal (1997), Mesci (1997), Rosendaal (1998), Franco (1999), Ye (2006)
Bertina (1994), Majerus (1994), Ridker (1995), Kemkes -Matthes (2004), Juul (2004), Ye
800886 F5 C T CC Blood Clot Risk due to Factor V Leiden
(2006)
Genes Analyzed for Rare Diseases and Syndromes (1065 total):
A4GALT, AANAT, AANAT, ABCA1, ABCA12 , ABCA4, ABCB1, ABCB11, ABCB7, ABCC2, ABCC6, ABCC8, ABCG2, ABCG5, ABCG8, ABHD5, ABO, ACAD M, ACADS, ACE, ACTA1, ACTA2, ACTG1, ACTN4, ACVRL1, ADA, ADAM33, ADAMTS13, ADD1, ADIPOQ, ADRA2A, ADRB1, ADRB2, ADRBK2,
ADSL, AFG3L2, AGL, AGT, AHI1, AICDA, AIRE, AK1, ALAD, ALAS2, ALB, ALDH3A2, ALG1, ALG12, ALG3, ALG6, ALMS1, ALPL, ALS2, AMACR, AMN, AMPD1, ANK1, ANKH, ANTXR2, APC, APOA2, APOA5, APOB, APOE, APOH, APP, APRT, AQP1, AQP2, AR, ARFGEF2, ARG1, ARHGEF10,
ARSA, ARSB, ARSE, ART4, ARX, ASAH, ASL, ASPA, ATCAY, ATM, ATP1A2, ATP1A3, ATP2A2, ATP2C1, ATP6V0A4, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATRX, AVP, AVPR2, B3GALT3, B4GALT7, BAAT, BARD1, BAT3, BBS1, BBS10, BBS4, BCAM, BCKDHA, BCKDHB, BCL11A, BCOR, BCS1L,
BDNF, BEST1, BIN1, BMPR1B, BRAF, BRCA1, BRCA2, BRIP1, BRWD3, BSCL2, BSN, BSND, BTD, BTK, C1NH, C2, C3, C5, CA2, CABP4, CACNA1A, CACNA1C, CACNA1F, CACNA1S, CACNB4, CARD15, CASP10, CASP8, CASR, CAT, CAV3, CBS, CC2D2A, CCK, CCL2, CCL3, CCL5, CCM2, CCR5,
CD151, CD36, CD3D, CD40, CD46, CD83, CD96, CDC73, CDH1, CDH23, CDKL5, CDKN1A, CDKN1B, CDKN2A, CDSN, CEP290, CERKL, CFB, CFH, CFHR5, CFTR, CHD7, CHEK2, CHM, CHMP2B, CHRNA1, CHRNA2, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHST3, CIAS1, CLCN2, CLCN5,
CLCN7, CLCNKB, CLDN16, CLN5, CLN6, CLN8, CLOCK, CNGA3, CNGB3, COCH, COL1A1, COL1A2, COL3A1, COL4A3, COL4A4, COL4A5, COL5A1, COL5A2, COL6A1, COL7A1, COL8A2, COMP, COX15, C POX, CPT1A, CPT2, CRB1, CREB1, CREBBP, CRELD1, CRP, CRX, CRYAB, CRYBB2, CRYGC,
CRYM, CST3, CSTB, CTH, CTLA4, CTSC, CTSK, CUBN, CUL4B, CXCR4, CYBA, CYBB, CYCS, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP1A1, CYP1A2, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP2A13, CYP2A6, CYP2B6, CYP2C19, CYP2C8, CYP2C9, CYP2D6, CYP2E1, CYP2J2, CYP2R1,
CYP3A4, CYP3A43, CYP3A5, CYP3A7, CYP4B1, DBH, DBT, DCDC2, DCLRE1C, DCTN1, DCX, DDB2, DES, DGUOK, DHCR24, DHCR7, DIAPH1 , DKC1, DLD, DMD, DNAI1, DNASE1, DPP10, DRD2, DRD4, DRD5, DSP, DSPP, DTNA, DTNBP1, DUOX2, DYSF, EBP, ECE1, ECGF1, EDN3, EDNRB,
EFHC1, EFNB1, EGFR, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B5, ELA2, ELAC2, ELN, EMD, EN2, ENG, ENPP1, EP300, EPB41 , EPB42, EPHB2, EPHX1, EPM2A, EPP, ERBB3, ERCC1, ERCC2, ERCC5, ERCC6, ESPN , ESR1, ESR2, ESRRB, ETFDH, ETHE1, EXT2, EYA4 , F10, F12, F13A1, F2, F5, F7, F8,
F9, FACL4, FAH, FAM92B, FANCC, FANCE, FANCF, FBN1, FBN2, FCGR3A, FGA, FGD1, FGD4, FGF23, FGF3, FGFR1, FGFR2, FGFR3, FGG, FH, FKRP, FLCN, FLG , FLNA, FLNB, FLT4, FMO2, FMO3, FMR1, FOXC2, FOXL2, FOXP2, FOXP3, FRMD7, FRZB, FTCD, FUCA1, FUT1, FUT3, FUT6, FXN,
FXYD2, G6PC, G6PD, GAA, GABRA1, GABRB1, GABRB3, GALNS, GALNT3, GALT, GAN, GAPDH, GARS, GATA1, GATA4, GBA, GBE1, GC, GCCR, GCH1, GCK, GCM2, GDAP1, GDF5, GDNF, GFAP, GFI1, GFM1, GGCX, G H1, GHRL, GJA1, GJA3, GJB2, GJB3, GJB6, GK, GLA, GLB1, GLDC, GLE1L,
Dante Labs
GLI2, GLI3, GLIS2, GLRA1, GLUD1, GM2A, GNAS, GNAT1, GNAT2, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNRHR, GP1BA, GP9, GPC3, GPC5, GPD1L, GPD2, GPR143, GPR50, GPR56, GRM6, GRM7, GRN, GSN, GSS, GSTM1, GSTT1, GUCY2D, GYS2, HADH2, HAX1, HBA2, HBB, HBD,
HBG2, HCN4 , HCRT, HCRTR2, HESX1, HEXA, HEXB, HFE, HGD, HLA, HLA-DPA1, HLA-DPB1, HLA-DRA, HLA-DRB1, HLCS, HMBS, HMGCL, HMGCR, HMGCS2, HNF4A, HOXD13, HPD, HPRT1 , HR, HRAS, HSD17B3, HSD3B2, HSF4, HSN2, HSPA1L, HSPB1, HTR1A, HTR2A, HTR2C, IDS, IDUA,
IFNG, IGF1R, IGHM, IGLL1, IHH, IKBKAP, IL10, IL12B, IL12RB1, IL1RN, IL2, IL2RG, IL4R, IL7R, IL8, INPP1, INS, INSL3, INSR, INVS, IRAK1, IRGM, ITGA6, ITGB2, ITGB3, ITGB4, IVD, JAG1, JAK2, JAK3, JRK, JUP, KAL1, KCNA1, KCNE1, KCNE3, KCNH2, KCNJ1, KCNJ11, KCNJ2, KCNMA1, KCNQ1,
KCNQ2, KCNQ4, KEL, KHK, KIAA0274, KIAA1267, KIF5A, KIR2DL1, KISS1R, KIT, KLK1, KRAS2, KRT1, KRT10, KRT12, KRT14, KRT17, KRT5, KRT6A, KRT9, KRTHB6, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LCAT, LDB3, LDLR, LEP, LEPR, LGI1, LHB, LHCGR, LIPA, LIPC, LIPH, LIPI,
LMNA, LMX1B, LPIN2, LPL, LRP5, LRPPRC, LRRK2, LTA, LYST, LYZ, MAF, MAP2K1, MAP2K2, MAPT, MARK1, MASS1, MASTL, MATN3, MBL2, MC1R, MC2R, MC3R, MC4R, MCCC1, MCCC2, MCFD2, MCM6, MCOLN1, MECP2, MED12, MEF2A, MEFV, MEN1, MET, MFN2, MFRP, MGAT2,
MICB, MID1, MIF, MINPP1, MITF, MKKS, MKS1, MLC1, MLH1, MLH3, MLYCD, MMAB, MMACHC, MMP9, MPI, MPL, MPO, MPZ, MRE11A, MSH5, MSH6, MSR1, MSX1, MTATP6, MTCO1, MTCYB, MTF1, MTHFD1, MTND1, MTND4, MTND5, MTND6, MTR, MTRNR1, MTRR, MTTE,
MTTF, MTTH, MTTK, MTTL1, MTTQ, MTTS1, MTTS2, MTTV, MUC1, MUT, MUTYH, MVK, MYF6, MYH11, MYH14, MYH3, MYH8, MYH9, MYL3, MYO6, MYO7A, MYO9B, MYOC, NAGPA, NALP1, NALP7, NAT1, NAT2, NBN, NCF2, NDP, NDUFS3, NDUFS8, NDUFV1, NEFL, NELF, NEU1,
NEUROG3, NF1, NF2, NFKBIA, NFKBIL1, NGFB, NHLRC1, NKX2-5, NLGN3, NLGN4X, NME1, NOBOX, NOG, NOS1AP, NOS2A, NOS3, NOTCH2, NOTCH3, NP, NPC1, NPC1L1, NPC2, NPHP1, NPHP4, NPHS1, NPHS2, NPR2, NR0B1, NR0B2, NR2E3, NR4A2, NR5A1, NRG1, NRXN1, NTRK1,
NTRK2, NYX , OAT, OCRL, OGG1, OPA1, OPA3, OPN1MW, OPTN, ORM1, OSTM1, OTC, OTOF, P2RY5, PAFAH1B1, PAH, PANK2, PARK2, PARK7, PAX3, PAX6, PAX8, PAX9, PC, PCCA, PCCB, PCDH15, PCNT, PCSK9, PDE11A, PDE4D, PDGFRA, PDHA1, PDHB, PEO1, PER2, PEX1, PEX12,
PEX13, PEX14, PEX26, PEX3, PEX5, PFC, PFKM, PGAM2, PGK1, PHEX, PHF6, PHKA2, PHOX2B, PHYH, PINK1, PIP5K1C, PITX2, PITX3, PKD1, PKHD1, PKLR, PLA2G7, PLEC1, PLEKHG5, PLG , PLOD1, PLP1, PMM2, PMP22, POLG, POMC, POMGNT1, POMT1, POMT2, POR, POU6F2, PPARA,
PPARG, PPGB, PPOX, PPP1R3A, PRF1, PRKAG2, PRKAR1A , PRNP, PROC, PROCR, PRODH, PROZ, PRPH, PRPH2, PRPS1, PRSS1, PRX, PSAP, PSEN1, PSEN2, PSPH, PSTPIP1, PTCH , PTEN, PTGIS, PTH, PTPN11, PTPN2, PTPN22, PTPRC, PTPRJ, PTS, PUS1, PVRL1, PXMP3, PYGL, PYGM, QDPR,
RAB27A, RAF1, RAG1, RAG2, RAPSN, RASA1, RB1, RDH12, RECQL2, RECQL3, RECQL4, RET, RHAG, RHO, RLBP1, RMRP , ROBO2, ROR2, RP1, RP2, RPGRIP1, RPGRIP1L, RPS6KA3, RTN4R, RUNX1, RUNX2, RYR1, S100B, SAA1, SAR1B, SBDS, SCN1A, SCN1B, SCN4A, SCN5A, SCN9A,
SCNN1A, SCNN1B, SCNN1G, SCO2, SDHD, SERPINA10, SERPINA3, SERPINA6, SERPINA7, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SERPINI1 , SETX, SFTPC, SGCA, SGCB, SGCE, SH3BP2, SH3TC2, SHH, SIX3, SLC12A1, SLC12A3, SLC12A6, SLC14A1, SLC16A1, SLC16A2, SLC19A2,
SLC22A5, SLC25A15, SLC25A20, SLC25A4, SLC26A2, SLC26A4, SLC2A2, SLC34A3, SLC35C1, SLC37A4, SLC39A13, SLC3A1, SLC40A1, SLC44A2 , SLC4A1 , SLC5A2, SLC5A5, SLC6A19, SLC6A2, SLC6A3, SLC6A4, SLC7A9, SLC9A9, SLITRK1, SLURP1, SMAD4, SMARCB1, SMN1, SMPD1,
SNAP25, SNCA, SNCAIP, SNCB, SOD1, SOD3, SOS1, SPAST, SPATA16, SPG20, SPG3A, SPI1, SPINK1, SPINK5, SPRED1, SPTA1, SPTB, SPTLC1, SQSTM1 , SRD5A2, ST14, ST3GAL5, STAR, STAT3, STK11, STOX1, STX4A, SYN3, TACSTD2, TAP1, TAP2, TAPBP, TAT, TAZ, TBCE, TBX20, TBX22,
TBX4, TBXAS1, TCF1, TCF2, TCF4, TCIRG1, TCN2, TCOF1, TECTA, TERC, TERT, TF, TFR2, TG, TGFB1, TGFBR1, TGFBR2, TGM1 , TGM5, TH, THBD, THPO , THRAP2, THRB, TITF1, TJP2, TLR2, TLR3, TMEM216, TMEM67, TMIE, TMPRSS3, TMPRSS6, TNF, TNFRSF1A, TNFSF11, TNNI2, TNNT2,
TNNT3, TNP1, TNXB, TOMM40, TOPORS, TOR1A, TP53, TPH2, TPI1, TPM2, TPO, TRAPPC2, TREM2, TREX1, TRPM6, TRPS1, TSC1, TSC2, TSHR, TTBK2, TTID, TTN, TTPA, TTR, TXNDC3, TYMS, TYR, TYRP1, UBE3A, UBIAD1, UCHL1, UCP1, UCP2, UCP3, UGT1A1, UGT1A7, UMODL1, UNG,
UPF3B, UROD, UROS, USH1C, USH1G, USH2A, USH3A, USP9Y, VANGL1, VDR, VEGF, VHL, VKORC1, VPS13A, VPS13B, VPS33B, VSX1, VWF, WAS, WFS1, WISP3, WNT10A, WT1, XDH, XPC, XRCC3, ZFPM2, ZIC2, ZIC3, ZNF41, ZNF81
Additional Melanoma Report References:
(1) Bonham et al. (2010), Ingram (1959), Ingram (1956), Dozy (1978), Mears et al.(1981), Kan (1982), Orkin et al.(1982), Antonarakis et al.(1984), Pagnier et al.(1984), Nagel et al.(1985), Jenkins (1987), Lapoumeroulie et al.(1992), Kulozik et al.(1986), Ragusa et al.(1988), Zeng et
al.(1994), Sammarco et al.(1988), Currat et al.(2002), Embury et al.(1987), Herrick (1910), Sherman (1940), Neel (1949), Pauling et al.(1949), Allison (1954), Kan (1981), Shalev et al.(1988), Barany (1991), Fischel-Ghodsian (1992), Grosveld et al.(1987), Greaves et al.(1990), Turhan
et al.(2002), Romero et al.(2002), Serjeant et al.(1968), Platt et al.(1994), Serjeant et al.(2007)
Altekruse SF, et al. SEER Cancer Statistics Review, 1975-2007, National Cancer Institute. http://seer.cancer.gov/csr/1975_2007/, based on November 2009 SEER data submission, posted t o the SEER web site, 2010.
Kefford RF, et al. (1999) “Counseling and DNA testing for individuals perceived to be geneticall y predisposed to melanoma: a consensus statement of the Melanoma Genetics Consortium.” J Clin Oncol. 17:3245-3251.
American Cancer Society 11/2010, www.cancer.org/Cancer/SkinCancer-Melanoma/DetailedGuide/melanoma-skin-cancer-prevention.
Additional Warfarin (Coumadin®) Dosing References:
(2) Wadelius et al. (2007), Krynetskiy et al. (2007), Yuan, et al. (2005), D'Andrea et al., (2005), Rieder et al. (2005), Geisen, et al. (2005), Sconce et al. (2005), Tham et al. (2006), Cooper et al. (2008), Wang et al. (2008), Wadelius et al. (2009), Anderson et al. (2007), Gage et al.
(2008), N Engl J Med 2009;360:753-64, Lenzini et al. (2007), Lenzini et al. (2008), Schwarz et al. (2008), Schelleman et al. (2008), Millican et al. (2007), US FDA Coumadin Drug Label approved 1/22/2010: www.accessdata.fda.gov/drugsatfda_docs/label/2010/009218s108lbl.pdf,
International Warfarin Pharmacogenetics Consortium (2009)
(3 )D'Andrea et al. (2005), Rieder et al. (2007), Wadelius (2007), Wadelius et al. (2005), Krynetskiy et al. (2007), Yuan et al. (2005), Borgiani et al. (2007), Rieder et al. (2005), Wadelius et al. (2009), Anderson et al. (2007), Gage et al. (2008), N Engl J Med 2009;360:753-64, Lenzini
et al. (2007), Lenzini et al. (2008), Schwarz et al. (2008), Schelleman et al. (2008), Millican et al. (2007)
(4) Li et al. (2006), Wadelius et al. (2007), Wadelius et al. (2008), Rieder et al. (2005), Wadelius et al. (2009), Anderson et al. (2007), Gage et al. (2008), N Engl J Med 2009;360:753-64, Lenzini et al. (2007), Lenzini et al. (2008), Schwarz et al. (2008), Schelleman et al. (2008), Millican
Dante Labs
et al. (2007)
(5) Yuan et al. (2005), Anderson et al. (2007), Gage et al. (2008), N Engl J Med 2009;360:753-64, Lenzini et al. (2007), Lenzini et al. (2008), Schwarz et al. (2008), Schelleman et al. (2008), Millican et al. (2007)
(6) Wadelius et al. (2007), Anderson et al. (2007), Gage et al. (2008), N Engl J Med 2009;360:753-64, Lenzini et al. (2007), Lenzini et al. (2008), Schwarz et al. (2008), Schelleman et al. (2008), Millican et al. (2 007)
(7) Wadelius et al. (2007), Krynetskiy et al. (2007), Wadelius et al. (2008), Caraco et al. (2008), Sconce et al. (2005), Anderson et al. (2007), Gage et al. (2008), N Engl J Med 2009;360:753-64, Lenzini et al. (2007), Lenzini et al. (2008), Schwarz et al. (2008), Schelleman et al. (2008),
Millican et al. (2007)
(8) King et al. (2004), Wadelius et al. (2007), Palkimas et al. (2003), Wadelius et al (2006), Caraco et al. (2008), Sconce et al . (2005), Anderson et al. (2007), Gage et al. (2008), N Engl J Med 2009;360:753-64, Lenzini et al. (2007), Lenzini et al. (2008), Schwarz et al. (2008),
Schelleman et al. (2008), Millican et al. (2007), US FDA Coumadin Drug Label approved 1/22/2010: www.accessdata.fda.gov/drugs atfda_docs/label/2010/009218s108lbl.pdf, International Warfarin Pharmacogenetics Consortium (2009)
(9) Sullivan-Klose et al. (1996), Steward et al. (1997), Wang et al. (2008) , Caraco et al. (2008), Sconce et al. (2005), Anderson et al. (2007), Gage et al. (2008), N Engl J Med 2009;360:753-64, Lenzini et al. (2007), Lenzini et al. (2008), Schwarz et al. (2008), Schelleman et al. (2008),
Millican et al. (2007), US FDA Coumadin Drug Label approved 1/22/2010: www.accessdata.fda.gov/drugsatfda_docs/label/2010/0092 18s108lbl.pdf, International Warfarin Pharmacogenetics Consortium (2009)
(10) Schwarz et al. (2008), Caraco et al. (2008), Sconce et al. (2005), Anderson et al. (2007), Gage et al. (2008), N Engl J Med 2 009;360:753-64, Lenzini et al. (2007), Lenzini et al. (2008), Schwarz et al. (2008), Schelleman et al. (2008), Millican et al. (2007)
(11) Chrn et al. (2006), Wang et al. (2008), Caraco et al. (2008), Sconce et al. (2005), Anderson et al. (2007), Gage et al. (2008 ), N Engl J Med 2009;360:753-64, Lenzini et al. (2007), Lenzini et al. (2008), Schwarz et al. (2008), Schelleman et al. (2008), Millican et al. (2007)
(12) Caldwell et al. (2008), Borgiani et al. (2009), Anderson et al. (2007), Gage et al. (2008), N Engl J Med 2009;360:753 -64, Lenzini et al. (2007), Lenzini et al. (2008), Schwarz et al. (2008), Schelleman et al. (2008), Millican et al. (2007)
(13) Rieder et al. (2007), Anderson et al. (2007), Gage et al. (2008), N Engl J Med 2009;360:753 -64, Lenzini et al. (2007), Lenzini et al. (2008), Schwarz et al. (2008), Schelleman et al. (2008), Millican et al. (2007)
Lifetime Risk Tables

The following tables are generic and for reference purposes only. They do not represent your own lifetime risk of any of
these conditions. Everyone who receives a report receives this exact page. Your own particular calculated lifetime risk
for each of the following diseases is conveyed in the pages that follow later in this report.
Your genetic report assigns you to a specific risk category for each of the following conditions. The tables below convey
what each category represents. Please note that the lifetime risk values associated with each risk category are unique for
each condition, which is why each disease has its own table.
Risk legend for Melanoma

Melanoma Risk
Risk Category Lifetime Risk Range Automatic Minimum Risk Level
Lower <2%
Normal 2%
Slightly Increased 2.1-3.9%
Moderate 4-9.9% One marker found in the MC1R gene
High 10-19.9% Two markers found in the MC1R gene
Very High ≥20% One marker found in the CDKN2A or CDK4 genes
Risk legend for Osteoporosis

Osteoporosis Risk*
Lifetime Risk Ranges
Risk Category Female Automatic Minimum Risk Level
Lower <30%
Normal 30%
Slightly Increased 30.1-34.9%
Moderate 35-49.9%
High 50-69.9%
Very High ≥70% One or two G661S risk markers in the COL1A2 gene
*Osteoporosis risk provided only for females due to insufficient genetic studies of osteoporosis risk in men.
Risk legend for Osteoarthritis

Arthritis (Osteoarthritis) Risk
Knee Arthritis Hip Arthritis Hand/Wrist Arthritis
Lifetime Risk Ranges Lifetime Risk Ranges Lifetime Risk Ranges
Risk Category Female Male
Lower <47% <40% <25% <30%
Normal 47% 40% 25% 30%*
Slightly Increased 47.1-49.9% 40.1-44.9% 25.1-29.9% 30.1-34.9%
Moderate 50-59.9% 45-59.9% 30-49.9% 35-49.9%
High 60-74.9% 60-74.9% 50-69.9% 50-69.9%
Very High ≥75% ≥75% ≥70% ≥70%
*The exact statistic for normal lifetime risk of wrist and hand arthritis does not exist, so the 30% lifetime risk is an estimate based on
epidemiologic data from the CDC.
Risk legend for Heart Attack

Heart Attack Risk*
Lifetime Risk Ranges
Risk Category Female Male Automatic Minimum Risk Level
Lower <25% <42%
Normal 25% 42%
Slightly Increased 25.1-29.9% 42.1-44.9%
Moderate 30-49.9% 45-49.9% One or two risk markers at rs268 in the LPL gene
High 50-69.9% 50-69.9%
One or two ri sk markers i n the LDLR, LPL, LIPI, LIPA, APOB, APOA2, APOA5,
Very High ≥70% ≥70% ABCG5, or ABCG8 genes
*Early-onset heart attack (before age 50) = one or two markers detected at rs5918 in ITGB3 or rs10757274, rs2383206, rs2383207,
rs10757278, rs1333049 in 9p21.
Dante Labs
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Wellness & Longevity App

Analysis Conducted May 2017

Genetic Report 20430544

Genetic Report 20430544

Patent, Trademark, and Copyright Information

Genetic Report 20430544

How to Read Your Genetic Report

If you are found to be a “carrier” of a condition, it means that the

If you are found to be “most likely affected” by a condition, it means that

The Actionability gauge. Many conditions can be prevented, or the onset

Genetic Report 20430544

Your genes indicate you are likely to excel at

Significant Exercise-Induced Fatigue Exercise-Induced Muscle Damage

Genetically Tailored Training

Clinical Significance Your Risk of Melanoma Actionability

Your genes indicate you have a Your Risk of Osteoarthritis

Hip Your Lifetime Risk of Hip Arthritis:

Wrist Your Lifetime Risk of Wrist Arthritis:

Clinical Significance of Osteoarthritis Actionability

move. Genetically Tailored Prevention

Clinical Significance Your Risk of Osteoporosis Actionability

Genetically Tailored Prevention

Your Genetic Assessment

Clinical Significance Your Risk of Actionability

Genetically Tailored Prevention

Monitoring Additional Information

Your genes indicate you have a Onset & Symptoms

Genetically Tailored Prevention

 means that no significant findings were detected.

 Aspirin is likely to be effective in helping to prevent heart attacks and strokes.

CHOLESTEROL LOWERING MEDICAITONS

Preventable Sudden Death

Your Genetic Assessment

Clinical Significance Your Risk of a Heart Arrhythmia Actionability

Monitoring Lifestyle Modifications & Interventions

Medications Additional Resources

Severe Adverse Reactions to Abacavir No Increased Risk Detected

Effectiveness of High Dose Atorvastatin (Lipitor®) vs

Risk of Adverse Reactions to Statins

Normal Effectiveness of Aspirin (Aspirin likely to

Clopidogrel (Plavix®) Effectiveness GREATLY REDUCED EFFECTIVENESS

WARFARIN RESISTANCE (MAY NEED SLIGHTLY

Adverse Reaction to Nitrous Oxide No Increased Risk Detected

Mercaptopurine and Azathioprine Adverse

Mercaptopurine and Azathioprine Dosing & Toxicity

Dihydropyrimidine Dehydrogenase Deficiency &

Susceptibility to Postanesthetic Apnea with

Normal Metabolism of Phenytoin (Approximate

Adverse Reactions to Sulfonylureas No Increased Risk Detected

Breast Cancer SLIGHTLY INCREASED RISK

Breast Cancer with Radiation Exposure No Increased Risk Detected

Colorectal Cancer HIGH RISK

Atrial Fibrillation INCREASED RISK

MTHFR Deficiency That May Lead to Blood Clots

Salt-sensitive Hypertension INCREASED RISK

Congenital Bilateral Absence of Vas Deferens No Increased Risk Detected

Obstructive Azoospermia No Increased Risk Detected

Digestive Tract & Liver

Liver Disease No Increased Risk Detected

Hirschsprung Disease No Increased Risk Detected

Blood Clot Risk due to Factor V Leiden No Increased Risk Detected

Blood Clot Risk due to Prothrombin 20210 No Increased Risk Detected