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Genetic Report
Confidential Report Number
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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
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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.
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.
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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
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
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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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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.
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.
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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
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
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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.
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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
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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.
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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.
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.
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
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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.
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
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.
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Genetic Profile
Disease or Condition Your Risk Status
Medications
Cancer
Adrenocortical Carcinoma No Increased Risk Detected
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Genetic Profile
Disease or Condition Your Risk Status
Heart & Blood Vessels
(Cardiology)
Child Development
Effect of Breastfeeding as a Baby on IQ BREASTFEEDING AS A BABY MAY INCREASE IQ
Fertility
Blood
(Hematology)
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Genetic Profile
Disease or Condition Your Risk Status
Hematology continued
Blood Clot Risk due to Antithrombin III Deficiency No Increased Risk Detected
Neurology
Pulmonology
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Genetic Profile
Disease or Condition Your Risk Status
Pulmonology continued
Infectious Disease
Hearing (Audiology)
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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)
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)
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Your Genetic Testing Data
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
51183 CDKN2A C A CC Melanoma, Cutaneous Malignant Hussussian (1994), Mori (1994), Whelan (1995), Ciotti (1996)
800946 CDKN2A C A CC Melanoma MacGeoch (1994), Holland (1995), Borg (1996), Hayward (1996), Liu (1999)
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Your Genetic Testing Data
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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)
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Your Genetic Testing Data
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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Your Genetic Testing Data
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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Your Genetic Testing Data
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
73820 MTTG T C -- Possible Sudden Death NOS Santorelli (1996), Tomari (2003), Scaglia (2008)
1917 SCN5A C A CC Possible Cause of Sudden Infant Death Syndrome Ackerman (2001), Darbar (2008)
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Your Genetic Testing Data
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
2639 KCNQ1 G A GG Long QT Syndrome Wang (1996), Jongbloed (1999), Moss (2007), Zhang (2008)
2729 KCNQ1 C T CC Long QT Syndrome, Type 1 Wang (1996), Russell (1996), Wang (1996), Li (1998)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
2813 KCNQ1 G C GG Long QT syndrome Li (1998), Kanters (1998), Murray (1999), Murray (1999)
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Your Genetic Testing Data
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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)
6952 DSG2 G A -- Increased RiskArrhythmogenic Right Ventricular Dysplasia Syrris (2007), Posch (2008a), Posch (2008b), Christensen (2010), Quarta (2011)
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)
Harmless Variant (previously associated with Arrhythmogenic
6965 DSG2 T G -- Syrris (2007), Kami (2008), Posch (2008a), Posch (2008b), Christensen (2010)
Right Ventricular Dysplasia, Familial)
1838 SCN5A C A CC Long QT Syndrome Millat (2006)
2819 KCNQ1 G C GG Long QT syndrome Li (1998), Kanters (1998), Murray (1999), Murray (1999)
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Your Genetic Testing Data
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
2728 KCNQ1 C A CC Long QT Syndrome 1 Wang (1996), Berthet (1999), Berthet (1999)
6757 DSP C T CC Dilated Cardiomyopathy with Woolly Hair and Keratoderma Uzumcu (2006)
800859 SCN5A C T CC Long QT Syndrome Makita (1998), Kambouris (2000), Miller (2004), Millat (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)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
1815 SCN5A G T -- Cardiac Arrhythmia Splawski (2002), Chen (2002), Plant (2006)
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Your Genetic Testing Data
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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Your Genetic Testing Data
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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)
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Your Genetic Testing Data
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
6960 DSG2 G A GG Arrhythmogenic Right Ventricular Dysplasia Pilichou (2006), Delmar (2010), Lai-Cheong (2007)
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Your Genetic Testing Data
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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)
6736 TGFB3 C T CC Arrhythmogenic Right Ventricular Dysplasia Rampazzo (2003), Beffagna (2005)
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Your Genetic Testing Data
Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
4397 KCNH2 G A GG Long QT Syndrome Tanaka (1997), Zhang (2008), Splawski (2000)
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2252 LMNA G A GG Dilated Cardiomyopathy Muchir (2000), Charniot (2003), Sebillon (2003)
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100782 SCN5A I D II Long QT Syndrome Wang (1995), Bennett (1995), Rudy (1999)
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100786 CASQ2 C T CC Catecholaminergic Polymorphic Ventricular Tachycardia Hofman (2007), Postma (2002)
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73692 DSC2 C T -- Arrhythmogenic Right Ventricular Dysplasia Beffagna (2007), Rampazzo (2008), De Bortoli (2010), Quarta (2011)
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28469 LAMP2 C T C Dilated Cardiomyopathy Danon (1981), Riggs (1983), Nishino (2000)
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4362 KCNH2 C T CC Long QT syndrome Dausse (1996), Splawski (2000), Zhang (2008)
4364 KCNH2 G A GG Long QT syndrome Curran (1995), Kagan (2000), Splawski (2000)
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2205 LMNA G T GG Hypertrophic Cardiomyopathy Caux (2003), Chen (2003), Hegele (2003), Vigouroux (2003), Jacob (2005)
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4397 KCNH2 G A GG Long QT syndrome Tanaka (1997), Splawski (2000), Zhang (2008)
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4409 KCNH2 C T CC Long QT syndrome G-to-A substitution at position (1882), Curran (1995), Splawski (2000)
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2678 KCNQ1 G A GG Long QT syndrome Romano-Ward syndrome (1925), Reardon (1993), Ackerman (1999), Murray (2002)
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2770 KCNQ1 C T CC Long QT Syndrome Priori (1998), Larsen (1999), Larsen (1999)
2774 KCNQ1 G A GG Long QT syndrome Priori (1998), Larsen (1999), Larsen (1999)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
3233 TNNT2 C T CC Hypertrophic Cardiomyopathy Watkins (1993), Thierfelder (1994), Watkins (1996)
4988 COX15 G A GG Hypertrophic Cardiomyopathy Kennaway (1990), Antonicka (2003), Oquendo (2004)
100709 TNNT2 I D II Hypertrophic Cardiomyopathy Kamisago (2000), Townsend (1994), Mogensen (2004)
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)
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102365 RYR1 C T CC Malignant Hyperthermia Quane (1993), O'Brien (1995), Tobin (2001)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
54956 RYR1 G A GG Central Core Disease Zhang (1993), Richter (1997), Phillips (1996)
55072 RYR1 G A GG Malignant Hyperthermia Keating (1994), Phillips (1996), Richter (1997)
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800832 RYR1 T C TT Central Core Disease Lynch (1999), Avila (2001), Tilgen (2001)
102367 RYR1 T C TT Malignant Hyperthermia Lynch (1999), Avila (2001), Tilgen (2001)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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
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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
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)
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4026 LDLR C A CC Heart Attack FH LEBANESE; Khachadurian (1964), Lehrman (1987), Oppenheim (1991)
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)
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)
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)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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)
Haplotype:54895, Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007), Lenzini (2008),
102451 CC-CC Warfarin (Coumadin®) Dosing
54835 Schwarz (2008), Schelleman (2008), Millican (2007)
Haplotype:54895, Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007), Lenzini (2008),
102466 CC-CC-AA Warfarin (Coumadin®) Dosing
54835, 54836 Schwarz (2008), Schelleman (2008), Millican (2007)
Haplotype:54895, Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007), Lenzini (2008),
102454 CC-AA Warfarin (Coumadin®) Dosing
54836 Schwarz (2008), Schelleman (2008), Millican (2007)
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)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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
Lenzini (2008), Schwarz (2008), Schelleman (2008), Millican (2007)
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
Lenzini (2008), Schwarz (2008), Schelleman (2008), Millican (2007)
Rost (2004), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007),
54902 VKORC1 A G AA Warfarin (Coumadin®) Dosing
Lenzini (2008), Schwarz (2008), Schelleman (2008), Millican (2007)
Rost (2004), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007),
54903 VKORC1 C A CC Warfarin (Coumadin®) Dosing
Lenzini (2008), Schwarz (2008), Schelleman (2008), Millican (2007)
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
Susceptibility to Postanesthetic Apnea with Succinylcholine,
55310 BCHE G A GG Harris (1961), La Du (1990), La Du (1991), Nogueira (1992)
Mivacurium, and Suxamethonium due to BCHE Gene
Bodin (2005), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007),
54910 VKORC1 C A CC Warfarin (Coumadin®) Dosing
Lenzini (2008), Schwarz (2008), Schelleman (2008), Millican (2007)
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)
Susceptibility to Postanesthetic Apnea with Succinylcholine,
55312 BCHE T C TT Kalow (1957), Kalow (1959), Kalow (1962)m McGuire (1989), La Du (1991)
Mivacurium, and Suxamethonium due to BCHE Gene
Susceptibility to Postanesthetic Apnea with Succinylcholine,
55313 BCHE C T CC Rubinstein (1978), Evans (1984), Whittaker (1988), Bartels (1992)
Mivacurium, and Suxamethonium due to BCHE Gene
Yuan (2005), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753-64, Lenzini (2007),
54913 VKORC1 C T CC Warfarin (Coumadin®) Dosing
Lenzini (2008), Schwarz (2008), Schelleman (2008), Millican (2007)
Wadelius (2007), Anderson (2007), Gage (2008), N Engl J Med 2009;360:753 -64, Lenzini
54914 VKORC1 C T CC Warfarin (Coumadin®) Dosing
(2007), Lenzini (2008), Schwarz (2008), Schelleman (2008), Millican (2007)
Susceptibility to Postanesthetic Apnea with Succinylcholine,
55335 BCHE T C TT Hidaka (1997)
Mivacurium, and Suxamethonium due to BCHE Gene
Susceptibility to Postanesthetic Apnea with Succinylcholine,
55348 BCHE A G AA Manoharan (2006)
Mivacurium, and Suxamethonium due to BCHE Gene
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
Susceptibility to Postanesthetic Apnea with Succinylcholine,
55350 BCHE A T AA Sudo (1997)
Mivacurium, and Suxamethonium due to BCHE Gene
Susceptibility to Postanesthetic Apnea with Succinylcholine,
55354 BCHE G T GG Hidaka (1997)
Mivacurium, and Suxamethonium due to BCHE Gene
Mercaptopurine and Azathioprine Dosing and Toxicity due to
55207 TPMT C G CC Evans (1991), Krynetski (1995), Tai (1996), Tai (1997), Ameyaw (1999)
TPMT
Susceptibility to Postanesthetic Apnea with Succinylcholine,
55357 BCHE C A CC Levano (2005)
Mivacurium, and Suxamethonium due to BCHE Gene
Susceptibility to Postanesthetic Apnea with Succinylcholine,
55361 BCHE C T CC Yen (2003)
Mivacurium, and Suxamethonium due to BCHE Gene
Susceptibility to Postanesthetic Apnea with Succinylcholine,
55365 BCHE T A TT Garry (1976), Evans (1984), Bartels (1992)
Mivacurium, and Suxamethonium due to BCHE Gene
Mercaptopurine and Azathioprine Dosing and Toxicity due to
55208 TPMT T C TT Evans (1991), Krynetski (1995), Tai (1996), Tai (1997), Ameyaw (1999)
TPMT
Mercaptopurine and Azathioprine Dosing and Toxicity due to
55215 TPMT T C TT Lindqvist (2004)
TPMT
Mercaptopurine and Azathioprine Dosing and Toxicity due to
55217 TPMT A G AA Otterness (1997)
TPMT
Mercaptopurine and Azathioprine Dosing and Toxicity due to
55219 TPMT C A CC Otterness (1997)
TPMT
Susceptibility to Postanesthetic Apnea with Succinylcholine,
55369 BCHE A C AA Primo-Parmo (1996)
Mivacurium, and Suxamethonium due to BCHE Gene
55374 ALAD C G CC Susceptibility to Lead Poisoning Wetmur (1991)
Mercaptopurine and Azathioprine Dosing and Toxicity due to
55225 TPMT T A TT Otterness (1997)
TPMT
Mercaptopurine and Azathioprine Dosing and Toxicity due to
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
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5-FU
55432 DPYD G A GG Vreken (1997)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55435 DPYD G A AA Vreken (1997)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55444 DPYD G A GG van Kuilenburg (2003)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55445 DPYD G A GG van Kuilenburg (2000)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55446 DPYD T G TT Ezzeldin (2005)
Toxicity
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5-FU
55449 DPYD T G TT van Kuilenburg (2000)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55450 DPYD T C TT van Kuilenburg (2002)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5-FU
55451 DPYD T G TT van Kuilenburg (2005)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55452 DPYD T C TT Gross (2003)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55453 DPYD C A CC Kouwaki (1998)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55455 DPYD T C TT van Kuilenburg (2000)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55456 DPYD C A CC Kouwaki (1998)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5-FU
55457 DPYD G A GG van Kuilenburg (2002)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55458 DPYD C T CC van Kuilenburg (2005)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
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)
Mercaptopurine and Azathioprine Dosing and Toxicity due to
55214 TPMT C T CC Hon (1999)
TPMT
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55460 DPYD C A CC Salgueiro (2004)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55462 DPYD C A CC Ezzeldin (2003)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5-FU
55465 DPYD T C TT van Kuilenburg (2000)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
55466 DPYD C A CC van Kuilenburg (2005)
Toxicity
Dihydropyrimidine Dehydrogenase Deficiency & Possible 5 -FU
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)
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)
47109 ATM A G -- Breast Cancer with Radiation Exposure Atencio (2001), Cardis (2007)
47114 ATM A G AA Breast Cancer with Radiation Exposure Sommer (2003), Cardis (2007)
47119 ATM A G AA Breast Cancer with Radiation Exposure Sommer (2003), Cardis (2007)
801305 BRCA1 D I DD Breast Cancer with Radiation Exposure Simard (1994), Gayther (1997), Gorski (2000), Rios (2001)
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)
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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)
Harmless variant (previously associated with Breast Cancer with
46970 ATM C T -- Atencio (2001), Cardis (2007)
Radiation Exposure)
47077 ATM C T CC Breast Cancer with Radiation Exposure Teraoka (2001), Cardis (2007)
47121 ATM C T CC Breast Cancer with Radiation Exposure Atencio (2001), Cardis (2007)
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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)
801314 BRCA1 C A CC Breast Cancer with Radiation Exposure Aziz (2001), Easton (2007)
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)
47239 ATM G T -- Breast Cancer with Radiation Exposure Teraoka (2001), Cardis (2007)
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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)
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)
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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)
801326 BRCA1 T C TT Breast Cancer with Radiation Exposure Vega (2002), Diez (2003)
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801711 BRCA2 C T CC Breast Cancer with Radiation Exposure Offit (2003), Alter (2007)
Harmless variant (previously associated with Breast Cancer with
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)
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)
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801344 BRCA1 T C TT Breast Cancer with Radiation Exposure Peelen (1997), Easton (2007)
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801719 BRCA2 G A GG Breast Cancer with Radiation Exposure Popp (2003), Wagner (2004), Alter (2007)
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)
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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
801726 BRCA2 I D II Breast Cancer with Radiation Exposure
(1999), Alter (2007)
801512 BRCA1 C A CC Breast Cancer with Radiation Exposure Valarmathi (2003)
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)
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801516 BRCA1 G A GG Breast Cancer with Radiation Exposure der Hout (2006)
801523 BRCA1 C A CC Breast Cancer with Radiation Exposure der Hout (2006)
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801532 BRCA1 C T CC Breast Cancer with Radiation Exposure Permuth-Way (2004), Easton (2007)
801395 BRCA1 A C AA Breast Cancer with Radiation Exposure der Hout (2006)
801739 BRCA2 G T GG Breast Cancer with Radiation Exposure der Hout (2006)
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801401 BRCA1 G A GG Breast Cancer with Radiation Exposure der Hout (2006)
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)
801406 BRCA1 G A GG Breast Cancer with Radiation Exposure der Hout (2006)
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801744 BRCA2 G T GG Breast Cancer with Radiation Exposure der Hout (2006)
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801752 BRCA2 A T AA Breast Cancer with Radiation Exposure der Hout (2006)
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801580 BRCA1 C A CC Breast Cancer with Radiation Exposure van Orsouw (1999)
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801766 BRCA2 C T CC Breast Cancer with Radiation Exposure der Hout (2006)
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801786 BRCA2 G T GG Breast Cancer with Radiation Exposure der Hout (2006)
801635 BRCA1 G A GG Breast Cancer with Radiation Exposure Abkevich (2004), Easton (2007)
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801797 BRCA2 T A TT Breast Cancer with Radiation Exposure No authors listed (1997)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
801686 BRCA1 C T CC Breast Cancer with Radiation Exposure Hoya (2001), Easton (2007)
801825 BRCA2 G T GG Breast Cancer with Radiation Exposure der Hout (2006)
801826 BRCA2 G T GG Breast Cancer with Radiation Exposure der Hout (2006)
801832 BRCA2 A G AA Breast Cancer with Radiation Exposure Vehmanen (1997), Sarantaus (2000), Sarantaus (2000)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
68601 FGFR2 A G AG Breast Cancer Hunter (2007), Stacey (2008), Raskin (2008)
801961 FGFR2 A G AG Breast Cancer with Radiation Exposure Hunter (2007), Stacey (2008), Raskin (2008)
45473 BRCA2 G A -- Likely harmless variant (previously associated with Breast Cancer) Sinilnikova (1999)
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)
47393 TP53 C T CC Breast Cancer Borresen (1992), Frebourg (1992), Masciari (2005)
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)
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801288 BRCA2 G T -- Likely harmless variant (previously associated with Breast Cancer) Schoumacher (2001)
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800944 CHEK2 C T -- Breast Cancer & Breast Cancer with Radiation Exposure Sodha (2002)
801295 BRCA2 G A GG Breast Cancer Popp (2003), Wagner (2004), Alter (2007)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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)
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)
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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)
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801726 BRCA2 I D II Breast Cancer Hirsch (2004), Reid (2005), Alter (2007)
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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)
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)
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801830 BRCA2 A G AA Breast Cancer Vehmanen (1997), Sarantaus (2000), Sarantaus (2000)
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)
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102283 BRCA1 G A -- Harmless variant (previously associated with Breast Cancer) Barker (1996)
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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)
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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)
44939 BRCA1 C T -- Harmless variant (previously associated with Breast Cancer) Schoumacher (2001)
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45259 BRCA1 A C AA Breast Cancer Monteiro (1996), Glover (2003), Glover (2003)
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46621 MSH2 A T AA Colorectal Cancer Froggatt (1999), Desai (2000), Kurzawski (2006)
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46535 MSH2 G C GG Colorectal Cancer Yuan (1999), Foulkes (2002), Sun (2005), Lavie (2008)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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)
782 AGT A G AG Salt-Sensitive Hypertension Jeunemaitre (1992), Jeunemaitre (1992), Lifton (1993)
788 AGT G A GA Salt-Sensitive Hypertension Jeunemaitre (1992), Jeunemaitre (1992), Frossard (1998)
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)
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)
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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)
20847 PROC C T CC Blood Clot Risk due to Protein C Deficiency Reitsma (1991)
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)
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20758 PROC C T CC Blood Clot Risk due to Protein C Deficiency Reitsma (1996)
20760 PROC C T CC Blood Clot Risk due to Protein C Deficiency Gandrille (1993)
20761 PROC C T CC Blood Clot Risk due to Protein C Deficiency Gandrille (1994)
20762 PROC C A CC Blood Clot Risk due to Protein C Deficiency Miyata (1995)
20763 PROC C T CC Blood Clot Risk due to Protein C Deficiency Gandrille (1993)
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)
20768 PROC C T CC Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
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)
20772 PROC G A GG Blood Clot Risk due to Protein C Deficiency Gandrille (1994)
20773 PROC C G CC Blood Clot Risk due to Protein C Deficiency Mimuro (1993)
20774 PROC C T CC Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20776 PROC G A GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
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)
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)
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20787 PROC C T CC Blood Clot Risk due to Protein C Deficiency Sorria (1994)
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)
20790 PROC C G CC Blood Clot Risk due to Protein C Deficiency Millar (2000)
20790 PROC C G CC Blood Clot Risk due to Protein C Deficiency Millar (2000)
20790 PROC C G CC Blood Clot Risk due to Protein C Deficiency Millar (2000)
20791 PROC G C GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20792 PROC G A GG Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20793 PROC G C GG Blood Clot Risk due to Protein C Deficiency Lind (1995)
20794 PROC G T GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
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)
20800 PROC G A GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20801 PROC G T GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
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)
20804 PROC G A GG Blood Clot Risk due to Protein C Deficiency Reitsma (1991)
20805 PROC C A CC Blood Clot Risk due to Protein C Deficiency Reitsma (1991)
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)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
20808 PROC C T CC Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20809 PROC G A GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
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)
20822 PROC C T CC Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20823 PROC C T CC Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
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)
20834 PROC G A GG Blood Clot Risk due to Protein C Deficiency Ireland (1996)
20835 PROC G A GG Blood Clot Risk due to Protein C Deficiency Ireland (1996)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
20836 PROC G A GG Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
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)
20839 PROC C T CC Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20841 PROC C A CC Blood Clot Risk due to Protein C Deficiency Poort (1993)
20842 PROC T C TT Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20843 PROC C T CC Blood Clot Risk due to Protein C Deficiency Gandrille (1993)
20844 PROC A G AA Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20845 PROC G A GG Blood Clot Risk due to Protein C Deficiency Gandrille (1993)
20846 PROC C T CC Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20848 PROC G A GG Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
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)
20851 PROC G A GG Blood Clot Risk due to Protein C Deficiency Gandrille (1993)
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)
20854 PROC G A GG Blood Clot Risk due to Protein C Deficiency Millar (1995)
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)
20857 PROC T C TT Blood Clot Risk due to Protein C Deficiency Gandrille (1994)
20858 PROC C T CC Blood Clot Risk due to Protein C Deficiency Reitsma (1995), Lind (2001)
20859 PROC C T CC Blood Clot Risk due to Protein C Deficiency Poort (1993)
20860 PROC G A GG Blood Clot Risk due to Protein C Deficiency Doig (1994)
20861 PROC G C GG Blood Clot Risk due to Protein C Deficiency Lind (1995)
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20862 PROC G A GG Blood Clot Risk due to Protein C Deficiency Long (1994)
20863 PROC C T CC Blood Clot Risk due to Protein C Deficiency Poort (1993)
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)
20867 PROC G A GG Blood Clot Risk due to Protein C Deficiency Millar (1993)
20868 PROC C A CC 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)
20870 PROC G T GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20871 PROC G A GG Blood Clot Risk due to Protein C Deficiency Conard (1992)
20873 PROC C T CC Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20874 PROC G A GG Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20875 PROC C T CC Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
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)
20882 PROC T C TT Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
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)
20885 PROC A G AA Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20886 PROC G A GG Blood Clot Risk due to Protein C Deficiency Poort (1993)
20887 PROC C T CC Blood Clot Risk due to Protein C Deficiency Poort (1993)
20888 PROC G A GG Blood Clot Risk due to Protein C Deficiency Poort (1993)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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)
20895 PROC G A GG Blood Clot Risk due to Protein C Deficiency Ireland (1996)
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)
20899 PROC G A GG Blood Clot Risk due to Protein C Deficiency Gandrille (1994)
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)
20903 PROC G C GG Blood Clot Risk due to Protein C Deficiency Miyata (1996)
20904 PROC G A GG Blood Clot Risk due to Protein C Deficiency Marchetti (1993)
20905 PROC G A GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20906 PROC G T GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20907 PROC G A GG Blood Clot Risk due to Protein C Deficiency Tsay (1993)
20908 PROC G C GG Blood Clot Risk due to Protein C Deficiency Miyata (1994)
20909 PROC C T CC Blood Clot Risk due to Protein C Deficiency Miyata (1996)
20910 PROC C A CC Blood Clot Risk due to Protein C Deficiency Gandrille (1995)
20911 PROC G A GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
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)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
20914 PROC T G TT Blood Clot Risk due to Protein C Deficiency Monagle (1998)
20915 PROC C A CC Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20916 PROC A C AA Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20917 PROC G A GG 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)
20933 PROC C T CC Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20934 PROC C T CC Blood Clot Risk due to Protein C Deficiency Hayashida (2003)
20935 PROC A G AA Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20936 PROC A G AA Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20937 PROC G A GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20938 PROC G A GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20939 PROC G A GG Blood Clot Risk due to Protein C Deficiency Miyata (1996)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
20941 PROC G A GG Blood Clot Risk due to Protein C Deficiency Ireland (1996)
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)
20945 PROC G A GG Blood Clot Risk due to Protein C Deficiency Reitsma (1991)
20946 PROC G C GG Blood Clot Risk due to Protein C Deficiency Reitsma (1991)
20947 PROC G T GG Blood Clot Risk due to Protein C Deficiency Reitsma (1991)
20948 PROC G C GG Blood Clot Risk due to Protein C Deficiency Sakata (2000)
20950 PROC G A GG Blood Clot Risk due to Protein C Deficiency Reitsma (1995)
20951 PROC G C GG Blood Clot Risk due to Protein C Deficiency Lind (1993)
20877 PROC T C TT Blood Clot Risk due to Protein C Deficiency Witt (1994)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
21145 PROS1 G A GG Blood Clot Risk due to Protein S Deficiency Espinosa-Parrilla (1999)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
21229 PROS1 T C TT Blood Clot Risk due to Protein S Deficiency Beauchamp (1998)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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)
21736 F11 T C TT Factor XI Deficiency Asakai (1989), Asakai (1991), Meijers (1992)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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)
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)
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)
56748 CFTR G C GG Idiopathic Pancreatitis Lira (2000), Scotet (2001), Kabra (2000), Derichs (2005), Conklin (2008)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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)
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)
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)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
69957 CALM1 C T TT Hip Arthritis Mototani (2005), Loughlin (2006), Poulou (2008), Shi (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)
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Variant ID Gene No Risk Risk Your Genetic Makeup Condition / Trait Assessed Reference(s)
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)
Kim (2003), Bufe (2005), Pemberton (2009), Mennella (2011), Carrai (2011), Garneau (2014),
412 TAS2R38 G A AA Bitterness Taster vs Non-taster
Boxer (2015)
Kim (2003), Bufe (2005), Pemberton (2009), Mennella (2011), Carrai (2011), Garneau (2014),
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)
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)
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,
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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.
(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
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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)
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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.
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