This calculator uses a set of statistical models to calculate chances of getting a particular trait and estimate disease risks.

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Alcohol Flush Reaction

Alcohol flush reaction is a condition in which an individual's face or body experiences flushes or blotches as a result of an accumulation of acetaldehyde, a byproduct of the catabolic metabolism of alcohol.

This reaction is usually experienced by people of East Asian descent - according to the analysis by HapMap project the allele of the ALDH2 gene responsible for this reaction is rare among Europeans and Africans, very rare among Mexican-Americans but quite common among people of Chinese and Japanese ancestry.

Research papers:
  • Yoshida et al.(1984). "Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals" Proc Natl Acad Sci U S A. 81(1):258-61
Bitter Taste Perception

Not all humans have the same perception of bitterness - a genetic variation in TAS2R38 gene prevents some people from tasting propylthiouracil (PROP) - a compound often found in cabbage, raw broccoli, coffee and dark beers. About 25% of people lack ability to detect this compound due to gene mutations and they find most food and drink to be less bitter, or not bitter at all.
Research papers:
  • Kim et al.(2003). "Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide" Science. 299(5610):1221-5.
  • Drayna et al.(2005). "Human taste genetics." Annu Rev Genomics Hum Genet 6:217-35
Earwax type

Some people have earwax that is wet, sticky and yellow or brown; other people's earwax is dry, crumbly and grayish.

The type of earwax is determined by a variation at a single gene (ATP-binding cassette C11 gene), with the 'wet earwax' allele being dominant over the 'dry earwax' one.

Research papers:
  • Yoshiura et al. (2006). "A SNP in the ABCC11 gene is the determinant of human earwax type." Nature Genetics 38(3):324-30.
Lactose intolerance

Lactose intolerance is the inability to digest lactose, a sugar found in milk and in some milk-derived dairy products.

Lactose intolerant individuals have insufficient levels of lactase, the enzyme that metabolizes lactose into glucose and galactose, in their digestive system. This condition is quite common in adults and is not dangerous, but has unpleasant symptomes such as abdominal bloating and cramps, flatulence, diarrhea or nausea after consuming significant amounts of dairy products.

Research papers:
  • Enattah et al. (2002). "Identification of a variant associated with adult-type hypolactasia." Nat Genet. 2002 Feb;30(2):233-7.
  • Bersaglieri et al. (2004). "Genetic signatures of strong recent positive selection at the lactase gene." Am J Hum Genet. 2004 Jun;74(6):1111-20.
Eye color

The pigmentation of the iris in humans varies from light brown to black, depending on the concentration of melanin in the iris pigment epithelium (located on the back of the iris). In conjunction with white collagen fibers it produces different shades of grey, green and hazel.

Eye color is an inherited polygenic trait, influenced by more than one gene - there is evidence that as many as 16 different genes could be responsible for eye color in humans - yet studies show that it is possible to predict eye color with enough accuracy by using only 6 SNPs.

Research papers:
  • Walsh et al. (2013). "The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA." Forensic Sci Int Genet. 2013 Jan;7(1):98-115
Hair color

Hair color is determined by the amount of two pigments - brown-black eumelanin predominates in black and brown hair and red-yellow pheomelanin in red hair. Blond hair contains low levels of both pigments.

The genetics of human hair color are not firmly established yet, but there are indications that multiple genes determine whether a person will have brown, blond or red hair.

Research papers:
  • Walsh et al. (2013). "The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA." Forensic Sci Int Genet. 2013 Jan;7(1):98-115
Breast size
Average cup size:C

Breast size is moderately heritable and recent studies has identified a number of single-nucleotide polymorphisms (SNPs) significantly associated with breast size. These studies provide insight into the genetic factors underlying normal breast development and show that some of these factors are also shared with probability of having breast cancer.
Research papers:
  • Eriksson et al. (2012) "Genetic variants associated with breast size also influence breast cancer risk." BMC Med Genet
Cleft Lip/Palate
Population average: 0.1%

Cleft lip and cleft palate are variations of a type of clefting congenital deformity caused by abnormal facial development. Approximately 1 in 700 children born have a cleft lip and/or a cleft palate.

Cleft lip is formed in the top of the lip as either a small gap or it continues into the nose. Cleft palate is a condition in which the two plates of the skull that form the hard palate are not completely joined.

Research papers:
  • Beaty et al. (2010) "A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4." Nat Genet
Male Pattern Baldness
Average Lifetime Risk: 50% Men

Male Pattern Baldness is the most common cause of hair loss in men. In classic pattern baldness, hair is lost in a well-defined pattern, beginning above both temples. Hair also thins at the crown of the head. Often a rim of hair around the sides and rear of the head is left.
Research papers:
  • Li et al. (05-31-2012) "Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases." PLoS Genet
Spot baldness
Average Lifetime Risk: 1.7%

Alopecia Areata is a medical condition in which hair is lost from some or all areas of the body, usually from the scalp. It causes bald spots on the scalp, especially in the first stages. In some cases, the condition can spread to the entire scalp or to the entire epidermis.
Research papers:
  • Petukhova et al. (2010) "Genome-wide association study in alopecia areata implicates both innate and adaptive immunity." Nature 466(7302):113-7
Tanning Ability

Research papers:
  • Nan et al. (2009) "Genome-wide association study of tanning phenotype in a population of European ancestry." J Invest Dermatol

Freckles are clusters of concentrated melaninized cells which are most easily visible on people with a fair complexion. The formation of freckles is triggered by exposure to sunlight - the exposure to UV-B radiation activates melanocytes to increase melanin production, which causes freckles to become darker and more visible. Although freckles are usually found on the face, they may also appear on any skin exposed to the sun, such as arms or shoulders.
Research papers:
  • Eriksson, Nicholas et al. "Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits." Ed. Greg Gibson. PLoS Genetics 6.6 (2010): e1000993.
80-90% of teenagers

Acne vulgaris (acne) is a common inflammatory skin disorder that occurs when hair follicles are clogged with dead skin cells and oil from the skin. Acne is characterized by areas of blackheads, whiteheads, pimples, and greasy skin, and may result in scarring. Genetics is thought to be the cause in about 80% of cases, while the remaining 20% are attributed to health, lifestyle and environment factors.
Research papers:
  • Navarini A.A. et al. (2014) "Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris." Nat. Commun. 5:4020 doi: 10.1038/ncomms5020
Ear protrusion

Prominent, or protruding ears are an inherited problem affecting 1-2% of the population. Prominent ears do not tend to improve and about 30% of babies who have prominent ears are born with normal-looking ears with the problem only arising in the first three months of life. There are no functional problems associated with prominent ears, but they may cause considerable psychological distress.
Research papers:
  • Adhikari, Kaustubh et al. "A Genome-Wide Association Study Identifies Multiple Loci for Variation in Human Ear Morphology." Nature Communications 6 (2015): 7500.
Ear lobe attachment

Most humans have ear lobes detached, but in some cases the lower lobe is connected to the side of the face.
Research papers:
  • Adhikari, Kaustubh et al. "A Genome-Wide Association Study Identifies Multiple Loci for Variation in Human Ear Morphology." Nature Communications 6 (2015): 7500.
Blood Type (ABO)

The ABO system is the most important blood-group system in human blood transfusion.

ABO types are classified by presense and absense of associated anti-A and anti-B antibodies. Presense of these antibodies is encoded by one genetic locus, the ABO locus, which has three alternative forms:A, B, and O. A child receives one of the three variants from each parent, giving rise to six possible genotypes and four possible blood types.

Research papers:
  • Satoh K., Itoh, Y.(2006). "Forensic ABO blood grouping by 4 SNPs analyses using an ABI PRISMR3100 genetic analyzer." International Congress Series 1288:49-51
  • Sung Ho Lee et al.(2009). "Rapid ABO Genotyping Using Whole Blood without DNA Purification." Korean J Lab Med 2009;29:231-7
Cholesterol, HDL
Average: 55 mg/dL

High-density lipoprotein (HDL, "Good Cholesterol") is one of the five major groups of lipoproteins that enable lipids like cholesterol and triglycerides to be transported within the water-based bloodstream. In healthy individuals, about thirty percent of blood cholesterol is carried by HDL.

HDL particles are able to remove cholesterol from within artery atheroma and transport it back to the liver for excretion or re-utilization. People with higher levels of HDL seem to have fewer problems with cardiovascular diseases, while those with low HDL cholesterol levels have increased rates for heart disease.

Research papers:
  • Teslovich et al. (2010) "Biological, clinical and population relevance of 95 loci for blood lipids." Nature
  • Ridker et al. (2009) "Polymorphism in the CETP gene region, HDL cholesterol, and risk of future myocardial infarction: Genomewide analysis among 18 245 initially healthy women from the Women's Genome Health Study." Circ Cardiovasc Genet
  • Willer et al. (2008) "Newly identified loci that influence lipid concentrations and risk of coronary artery disease." Nat Genet
Cholesterol, LDL
Average: 115 mg/dL

Low-density lipoprotein (LDL, "Bad Cholesterol") is one of the five major groups of lipoproteins that enable lipids like cholesterol and triglycerides to be transported within the water-based bloodstream.

Studies have shown that higher levels of type LDL particles correlate with much faster growth of atheroma, progression of atherosclerosis and earlier and more severe cardiovascular disease events.

Research papers:
  • Teslovich et al. (2010) "Biological, clinical and population relevance of 95 loci for blood lipids." Nature
  • Willer et al. (2008) "Newly identified loci that influence lipid concentrations and risk of coronary artery disease." Nat Genet
Cholesterol, Total
Average: 210 mg/dL

Cholesterol is an organic chemical substance classified as a waxy steroid of fat. Although cholesterol is important and necessary for human health, high levels of cholesterol in the blood have been linked to damage to arteries and cardiovascular disease.

The Cholesterol levels include:

  • LDL (low-density lipoprotein cholesterol, 'bad' cholesterol)
  • HDL (high-density lipoprotein cholesterol, 'good' cholesterol)
  • Triglycerides (fats carried in the blood)

Research papers:
Average: 144 mg/dL

In humans, triglycerides are a mechanism for storing unused calories, and their high concentration in blood correlates with the consumption of starchy and other high carbohydrate foods.

High levels of triglycerides in the bloodstream have been linked to atherosclerosis and the risk of heart disease and stroke.

Research papers:
  • Teslovich et al. (2010) "Biological, clinical and population relevance of 95 loci for blood lipids." Nature
  • Willer et al. (2008) "Newly identified loci that influence lipid concentrations and risk of coronary artery disease." Nat Genet
Resting heart rate
Average: 67 bpm

Heart rate is the number of heartbeats per unit of time, usually expressed as beats per minute (bpm). Heart rate can vary as the body's need to absorb oxygen and excrete carbon dioxide changes, such as during physical exercise or sleep. The typical resting heart rate in adults is 60 to 100 bpm. Resting Heart Rates below 60 bpm may be referred to as bradycardia, while rates above 100 bpm at rest may be called tachycardia.
Research papers:
  • Eijgelsheim et al. (2010) "Genome-wide association analysis identifies multiple loci related to resting heart rate." Hum Mol Genet
Caffeine Consumption
Average: 280 mg/day

Caffeine acts as a central nervous system stimulant, temporarily warding off drowsiness and restoring alertness. Beverages containing caffeine, such as coffee, tea, soft drinks, and energy drinks, enjoy great popularity; 90% of adults consume caffeine daily. Ordinary consumption has low health risks, but consumption of large amounts of caffeine can lead to both positive and negative effects.
Research papers:
  • Amin et al. (2011) "Genome-wide Association Analysis of Coffee Drinking Suggests Association with CYP1A1/CYP1A2 and NRCAM." Mol Psychiatry 10.1038/mp.2011.101
  • Sulem et al. (2011) "Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption." Hum Mol Genet. 20(10):2071-7
  • Cornelis et al. (2011) "Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption."PLoS Genet. 7(4):e1002033
Smoking Behavior
Average: 14 cigarettes/day

There are many social and environmental factors that affect whether people start smoking, but genetic factors play a significant part in how dependent on nicotine they'll become and how much they'll smoke.
Research papers:

Resistance and Immunity

Resistance to HIV/AIDS

Some people are naturally resistant to infection with HIV (the virus that causes AIDS) due to Delta32 mutation in the CCR5 gene that prevents the CCR5 protein from reaching the surface of the immune cells. The CCR5 protein is one of the proteins HIV uses to bind to and enter immune cells, so people who have two copies of CCR5Delta32 are almost completely resistant to HIV infection. The protection given by CCR5Delta32 mutation is incomplete though, because some strains of HIV can use another protein called CXCR4 to bind to immune cells.
Resistance to Malaria

Genetic resistance to malaria occurs through changes in human red blood cells that hinder the malaria parasite's ability to invade and replicate within these cells. Duffy Antigen mutation prevents one of the malaria parasite, Plasmodium vivax, from entering red blood cells. Having one abnormal allele of the hemoglobin beta gene (Sickle Cell Trait) gives protection against another common malaria parasite, Plasmodium falciparum.
Resistance to Norovirus

Noroviruses, also called Norwalk-like viruses (NLV), are one of the main causes of non-bacterial epidemics of gastroenteritis or 'stomach flu'. These viruses usually appears in closed communities like schools, ships, military camps and such. Some people are resistant to the most common strains of Norovirus thanks to a mutation in FUT2 gene.
Peanut Allergy
Average Risk: 0.6%

Peanut allergy is a type of food allergy and is among the most common food allergies found in children.
Research papers:
  • Hong, Xiumei et al. "Genome-Wide Association Study Identifies Peanut Allergy-Specific Loci and Evidence of Epigenetic Mediation in U.S. Children." Nature communications 6 (2015): 6304

Inheritable diseases

Agenesis of the Corpus Callosum with Peripheral Neuropathy

Agenesis of the Corpus Callosum with Peripheral Neuropathy is an autosomal recessive disease caused by mutations in the SLC12A6 gene and characterized by developmental abnormalities of the brain and progressive impairment of the ability to move, feel, and think clearly.
Bloom Syndrome

Bloom syndrome is a rare autosomal recessive disorder characterized by short stature and predisposition to the development of cancer. Complications of the disorder may include chronic lung problems, diabetes, and learning disabilities.
Canavan Disease

Canavan disease is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain.
Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)

Congenital disorder of glycosylation type 1a is an autosomal recessive disorder caused by mutations in the PMM2 gene, which encodes a PMM protein.
D-Bifunctional Protein Deficiency

D-Bifunctional protein deficiency is an autosomal recessive disorder caused by mutations in the HSD17B4 gene that disrupt the breakdown of fatty acids in peroxisomes. Most infants with DBP deficiency have low muscle tone and develop seizures within the first month of life, and usually do not live past the age of two years
Dihydrolipoamide Dehydrogenase Deficiency

Dihydrolipoamide dehydrogenase deficiency is an autosomal recessive disease caused by mutations in the DLD gene and results in the inability to metabolize certain amino acids and energy-containing molecules.
DPD Deficiency

Dihydropyrimidine dehydrogenase deficiency (DPD deficiency) is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase. People with this condition may develop life-threatening toxicity following exposure to 5-fluorouracil (5-FU), a chemotherapy drug that is used in the treatment of cancer.
Familial Dysautonomia

Familial Dysautonomia is an inherited recessive disorder that affects the development and function of nerves throughout the body
Glycogen Storage Disease Type 1a

Glycogen storage disease type I (GSD I) or von Gierke's disease, is a genetic disease results from deficiency of the enzyme glucose-6-phosphatase. This deficiency impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis, causing severe hypoglycemia and an increased glycogen storage in liver and kidneys.
GRACILE Syndrome

GRACILE syndrome is an autosomal recessive genetic disorder, caused by mutation in BCS1L gene.

Hereditary haemochromatosis is a genetic disorder that causes accumulation of iron in the body. It is characterized by an accelerated rate of intestinal iron absorption and progressive iron deposition in various tissues that typically begins to be expressed in the third to fifth decades of life, but may occur in children.
Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy is a disease of the myocardium in which a portion of the myocardium is thickened without any obvious cause. It is well known as a leading cause of sudden cardiac death in young athletes.
Leigh Syndrome, French Canadian Type (LSFC)

Maple Syrup Urine Disease Type 1B

Maple syrup urine disease is an autosomal recessive metabolic disorder caused by mutations in the BCKDHB gene and affecting branched-chain amino acids
Mucolipidosis IV

Mucolipidosis type IV (ML IV) is an autosomal recessive lysosomal storage disorder, caused by mutations in the MCOLN1 gene, which encodes a non-selective cation channel mucolipin1. People with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations.
Nijmegen Breakage Syndrome

Nijmegen breakage syndrome is a rare autosomal recessive congenital disorder causing chromosomal instability due to a mutation in the NBS1 gene.
Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1)

Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones, seizures, recurrent respiratory tract infections, and congenital cataracts
Salla Disease

Salla disease is an autosomal recessive lysosomal storage disease, caused by a mutation in the SLC17A5 gene and characterized by early physical impairment and mental retardation.
Sickle Cell Anemia & Malaria Resistance

Sickle-cell disease (SCD), or sickle-cell anemia (SCA) is an autosomal recessive genetic blood disorder, characterized by red blood cells that assume an abnormal, sickle shape. The sickling occurs because of a mutation in the hemoglobin gene and decreases the cells' flexibility and results in a risk of various complications. There is a fitness benefit in carrying only a single sickle-cell gene (so called sickle cell trait). Those with only one of the two alleles of the sickle-cell disease are more resistant to malaria infection and show less severe symptoms when infected.
Torsion Dystonia

Torsion dystonia is a autosomal disorder caused by a mutation in the DYT1 gene and characterized by painful muscle contractions resulting in uncontrollable distortions.
Zellweger Syndrome Spectrum

Zellweger syndrome is a rare congenital disorder caused by mutations in genes that encode peroxins, proteins required for the normal assembly of peroxisomes. As a result of impaired peroxisome function, an individual's tissues and cells can accumulate very long chain fatty acids and branched chain fatty acids that are normally degraded in peroxisomes. The accumulation of these lipids can impair the normal function of multiple organ systems. In addition, these individuals can show deficient levels of plasmalogens that are especially important for brain and lung function.

Cancer Risks

Basal Cell Carcinoma
Average Lifetime Risk: 30%

Basal-cell carcinoma is a skin cancer and the most common type of cancer, although it rarely metastasizes or kills.
Research papers:
  • Nan et al. (2011) "Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma." Hum Mol Genet
  • Stacey et al. (2008) "Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits." Nat Genet
Breast Cancer
Average Lifetime Risk: 12.3% Women

Breast cancer is a type of cancer originating from breast tissue, most commonly from the inner lining of milk ducts or the lobules that supply the ducts with milk. Worldwide, breast cancer comprises 22.9% of all cancers (excluding non-melanoma skin cancers) in women. The primary risk factors for breast cancer are female sex and older age, together with lifestyle and genetic factors.
Research papers:
  • Fletcher et al. (2011) "Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study." J Natl Cancer Inst
  • Haiman et al. (2011) "A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer." Nat Genet
  • Antoniou et al. (2010) "A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population." Nat Genet
  • Turnbull et al. (2010) "Genome-wide association study identifies five new breast cancer susceptibility loci." Nat Genet
  • Thomas et al. (2009) "A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)." Nat Genet
  • Easton et al. (2007) "Genome-wide association study identifies novel breast cancer susceptibility loci." Nature
Colorectal Cancer
Average Lifetime Risk: 5%

Colorectal cancer, commonly known as colon cancer or bowel cancer, is a cancer from uncontrolled cell growth in the colon, rectum or in the appendix. Most colorectal cancer occurs due to lifestyle and increasing age with only a minority of cases associated with underlying genetic disorders.
Research papers:
  • Houlston et al. (2010) "Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33." Nat Genet
  • Houlston et al. (2008) "Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer." Nat Genet
  • Tenesa et al. (2008) "Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21." Nat Genet
  • Tomlinson et al. (2008) "A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3." Nat Genet
Lung Cancer
Average Lifetime Risk: 7.7% Men, 6.3% Women

Lung cancer is a disease characterized by uncontrolled cell growth in tissues of the lung. It's the deadliest type of cancer for both men and women, with more people die of lung cancer than of breast, colon and prostate cancers combined.The most common cause of lung cancer is long-term exposure to tobacco smoke which causes 80 to 90% of lung cancers. Nonsmokers account for 10 to 15% of lung cancer cases, and these cases are often attributed to a combination of genetic factors, radon gas, asbestos and air pollution.
Research papers:
  • Broderick et al. (2009) "Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study." Cancer Res. 69(16): 6633-6641
  • Wang et al. (2008) "Common 5p15.33 and 6p21.33 variants influence lung cancer risk." Nat Genet. 40(12):1407-9
  • McKay et al. (2008) "Lung cancer susceptibility locus at 5p15.33." Nat Genet
Lung Cancer: Adenocarcinoma
Average Lifetime Risk: 3.4%

Adenocarcinoma of the lung is a common histological form of lung cancer, accountable for approximately 40% of lung cancer cases.
Research papers:
  • Landi et al. (10-15-2009) "A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma." Am J Hum Genet
Average Lifetime Risk: 2.3% Men, 1.6% Women

Melanoma is a malignant tumor of skin cells that produce the dark pigment, melanin. It is less common than other skin cancers, but is much more dangerous if it is not found early, causing the majority of skin cancer-related deaths. A number of genetic mutations are known to greatly increase susceptibility to melanoma.
Research papers:
  • Macgregor et al. (2011) "Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3." Nat Genet
  • Teerlink et al. (2011) "A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q." Hum Genet
  • Barrett et al. (2011) "Genome-wide association study identifies three new melanoma susceptibility loci." Nat Genet
  • Bishop et al. (2009) "Genome-wide association study identifies three loci associated with melanoma risk." Nat Genet
  • Brown et al. (2008) "Common sequence variants on 20q11.22 confer melanoma susceptibility." Nat Genet
Ovarian Cancer
Average Lifetime Risk: 1.4% Women

Ovarian cancer is a cancerous growth arising from the ovary. The risk of developing ovarian cancer appears to be affected by several factors, including age and genetic factors. Approximately 25% of ovarian cancer deaths occur in women between 35 and 54 years of age and more than 50% of the deaths occur in women between 55 and 74 years of age.
Research papers:
  • Goode et al. (2010) "A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24." Nat Genet. 42(10):874-9
  • Song et al. (2009) "A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2." Nat Genet. 41(9):996-1000
Prostate Cancer
Average Lifetime Risk: 16% Men

Prostate cancer is a form of cancer that develops in the prostate. It tends to develop in men over the age of fifty and globally is the sixth leading cause of cancer-related death in men. Many factors, including genetics and diet, have been implicated in the development of prostate cancer.
Research papers:
  • Kote-Jarai et al. (2011) "Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study." Nat Genet
  • Schumacher et al. (2011) "Genome-wide association study identifies new prostate cancer susceptibility loci." Hum Mol Genet
  • Eeles et al. (2009) "Identification of seven new prostate cancer susceptibility loci through a genome-wide association study." Nat Genet
  • Eeles et al. (2009) "Identification of seven new prostate cancer susceptibility loci through a genome-wide association study." Nat Genet
  • Thomas et al. (2008) "Multiple loci identified in a genome-wide association study of prostate cancer." Nat Genet
  • Gudmundsson et al. (2007) "Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes" Nat Genet

Cardiovascular diseases

Atrial fibrillation
Average Lifetime Risk: 26%

Atrial fibrillation is the most common cardiac arrhythmia. It is often associated with palpitations, fainting, chest pain, or congestive heart failure.
Research papers:
  • Ellinor et al. (2012) "Meta-analysis identifies six new susceptibility loci for atrial fibrillation." Nat Genet. 44(6):670-5
  • Ellinor et al. (2010) "Common variants in KCNN3 are associated with lone atrial fibrillation." Nat Genet. 42(3):240-4
  • Benjamin et al. (2009) "Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry." Nat Genet. 41(8):879-81
Venous thromboembolism
Average Lifetime Risk: 12.3%

Venous thromboembolism is a disease that includes both deep vein thrombosis and pulmonary embolism. It results from a combination of hereditary and acquired risk factors. Pulmonary embolism is potentially life threatening if prompt medical attention is not received.
Research papers:
  • Heit et al. (2012) "A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q." J Thromb Haemost. 10(8):1521-31
  • Germain et al. (2011) "Genetics of venous thrombosis: insights from a new genome wide association study." PLoS One. 6(9):e25581
Abdominal aortic aneurysm
Average Lifetime Risk: 1.5%

Research papers:
  • Gretarsdottir S et al. (2010) "Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm." Nat Genet
  • Bown MJ et al. (2011) "Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1." Am J Hum Genet
  • Bradley DT et al. (2013) "A variant in LDLR is associated with abdominal aortic aneurysm." Circ Cardiovasc Genet

Other diseases

Age-related macular degeneration
Average Lifetime Risk: 3% Men, 6% Women

Age-related macular degeneration is a medical condition which usually affects older adults and results in a loss of vision in the center of the visual field due to damage to the retina. Macular degeneration can make it difficult or impossible to read or recognize faces.
Research papers:
  • Cipriani et al. (2012) "Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3." Hum Mol Genet. 21(18):4138-50
  • Yu et al. (2011) "Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration." Hum Mol Genet. 20(18):3699-709
  • Chen et al. (2010) "Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration." Proc Natl Acad Sci U S A. 107(16):7401-6
  • Neale et al. (2010) "Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)." Proc Natl Acad Sci U S A. 107(16):7395-400
Celiac disease
Average Lifetime Risk: 1%

Celiac disease is an autoimmune disorder of the small intestine that occurs in genetically predisposed people of all ages from middle infancy onward. Symptoms include chronic diarrhea, failure to thrive and fatigue.
Research papers:
  • Dubois et al. (2010) "Multiple common variants for celiac disease influencing immune gene expression." Nat Genet
  • Hunt et al. (2008) "Newly identified genetic risk variants for celiac disease related to the immune response." Nat Genet
Crohn's disease
Average Lifetime Risk: 0.5%

Crohn's disease is a type of inflammatory bowel disease causing a wide variety of symptoms, primarily abdominal pain, diarrhea, vomiting, or weight loss. Crohn's disease is caused by a combination of environmental factors and genetic predisposition, mostly with variations of the NOD2 gene.
Research papers:
  • Kenny et al. (2012) "A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci." PLoS Genet. 8(3):e1002559
  • Franke et al. (2010) "Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci." Nat Genet. 42(12):1118-25
  • Barrett et al. (2008) "Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease." Nat Genet. 40(8):955-62
  • Rioux et al. (2007) "Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis." Nat Genet. 39(5):596-604
  • WTCCC (2007) "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls." Nature 447(7145):661-78
  • Ogura et al. (2001) "A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease" Nature 411, 603-606
Type 1 Diabetes
Average Lifetime Risk: 0.4%

Type 1 diabetes is a form of diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of the pancreas. Eventually, type 1 diabetes is fatal unless treated with insulin. Type 1 diabetes is a polygenic disease, with many genes contribute to its onset together with environmental factors.
Research papers:
  • Barrett et al. (2009) "Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes." Nat Genet
  • Bradfield et al. (09-29-2011) "A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci." PLoS Genet
  • Cooper et al. (2008) "Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci." Nat Genet
  • Hakonarson et al. (2008) "A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study" Diabetes
  • Todd et al. (2007) "Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes" Nat Genet
  • WTCCC (2007) "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls." Nature
Type 2 Diabetes
Average Lifetime Risk: 30% Men, 40% Women

Type 2 Diabetes is a metabolic disorder that is characterized by high blood glucose in the context of insulin resistance and relative insulin deficiency. It makes up about 90% of cases of diabetes. The development of type 2 diabetes is caused by a combination of lifestyle and genetic factors.
Research papers:
  • Perry et al. (2012) "Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases." PLoS Genet
  • Voight et al. (2010) "Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis." Nat Genet
  • Zeggini et al. (2008) "Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes." Nat Genet
  • Saxena et al. (2007) "Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels" Science
  • Scott et al. (2007) "A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants." Science
Average Lifetime Risk: 7%

Gallstones are hard, pebble-like deposits that form inside the gallbladder. Presence of gallstones in the gallbladder may lead to acute cholecystitis. Presence of gallstones in other parts of the biliary tract can cause obstruction of the bile ducts, which can lead to serious conditions such as ascending cholangitis or pancreatitis.
Research papers:
  • Buch et al. (2007) "A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease." Nat Genet. 39(8):995-9
Average Lifetime Risk: 22.8% Men, 7.2% Women

Gout is a painful condition that occurs when the bodily waste product uric acid is deposited as needle-like crystals in the joints and/or soft tissues. In the joints, these crystals cause inflammatory arthritis, which leads to intermittent swelling, redness, heat, pain, and stiffness in the joints.

Usually, gout initially affects the joints of the big toe, but other joints and areas around can be affected as well.

There is a number of risk factors that are associated with gout, including genetics, age, weight, diet and alcohol consumption

Research papers:
  • Kottgen A et al. (12/23/2012) "Genome-wide association analyses identify 18 new loci associated with serum urate concentrations." Nat Genet
  • Sulem P et al. (2011) "Identification of low-frequency variants associated with gout and serum uric acid levels." Nat Genet
Multiple sclerosis
Average Lifetime Risk: 0.2%

Multiple sclerosis is an inflammatory disease in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged, leading to demyelination and scarring as well as a broad spectrum of signs and symptoms. Disease onset usually occurs in young adults, caused by a combination of genetic, environmental and infectious factors.
Research papers:
  • Sawcer et al. (2011) "Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis." Nature
  • Jakkula et al. (2010) "Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene." Am J Hum Genet
  • Patsopoulos et al. (2011) "Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci." Ann Neurol
  • Sanna et al. (2010) "Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis." Nat Genet
  • Bahlo et al. (2009) "Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20." Nat Genet
  • De Jager et al. (2009) "Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci." Nat Genet
  • Comabella et al. (2008) "Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms." PLoS One
Average Lifetime Risk: 40%

Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health, leading to reduced life expectancy and/or increased health problems. It increases the likelihood of various diseases, particularly heart disease, type 2 diabetes, obstructive sleep apnea, certain types of cancer, osteoarthritis and asthma. Obesity is most commonly caused by a combination of excessive food energy intake, lack of physical activity and genetic susceptibility.
Research papers:
  • Bradfield et al. (2012) "A genome-wide association meta-analysis identifies new childhood obesity loci." Nat Genet. 44(5):526-31
  • Jiao et al. (2011) "Genome wide association study identifies KCNMA1 contributing to human obesity." BMC Med Genomics. 4:51
  • Meyre et al. (2009) "Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations." Nat Genet. 41(2):157-9
Primary biliary cirrhosis
Average Lifetime Risk: 0.1% Men, 0.4% Women

Primary biliary cirrhosis is an autoimmune disease of the liver characterized by the slow progressive destruction of the small bile ducts within the liver. When these ducts are damaged, bile builds up in the liver and damages the tissue, which can lead to scarring, fibrosis and cirrhosis.
Research papers:
  • Mells et al. (2011) "Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis." Nat Genet
  • Liu et al. (2010) "Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis." Nat Genet
Average Lifetime Risk: 4%

Psoriasis is an autoimmune disease that affects the skin causing accelerated growth of skin cells. The most common form, plaque psoriasis, is commonly seen as red and white hues of scaly patches appearing on the top first layer of the skin. Psoriasis has a large hereditary component, and many genes are associated with it.
Research papers:
  • Ellinghaus et al. (2010) "Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2." Nat Genet
  • Strange et al. (2010) "A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1." Nat Genet
  • Stuart et al. (2010) "Genome-wide association analysis identifies three psoriasis susceptibility loci." Nat Genet
  • Nair et al. (2009) "Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways." Nat Genet
  • Capon et al. (2008) "Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene." Hum Mol Genet
  • Liu et al. (2008) "A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci." PLoS Genet
Restless Legs Syndrome
Average Lifetime Risk: 4%

Restless legs syndrome or Willis-Ekbom disease is a neurological disorder characterized by an irresistible urge to move one's body to stop uncomfortable or odd sensations. It most commonly affects the legs, but can affect the arms and torso as well.
Research papers:
  • Schormair et al. (2008) "PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome." Nat Genet
  • Stefansson et al. (2007) "A genetic risk factor for periodic limb movements in sleep." N Engl J Med
  • Winkelmann et al. (2007) "Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions" Nat Genet
Ulcerative colitis
Average Lifetime Risk: 0.1%

Ulcerative colitis is a form of inflammatory bowel disease. It is a disease of the colon that includes characteristic ulcers. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset.
Research papers:
  • Anderson et al. (2011) "Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47." Nat Genet
  • McGovern et al. (2010) "Genome-wide association identifies multiple ulcerative colitis susceptibility loci." Nat Genet
  • Barrett et al. (2009) "Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region." Nat Genet
  • Silverberg et al. (2009) "Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study." Nat Genet
  • Franke et al. (2008) "Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility." Nat Genet
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