Genotype
From SNPedia
As most commonly used within SNPedia, genotype refers to the pair of SNPs inherited at a given chromosomal position, one inherited from Dad, one inherited from Mom. Example: rs1234(A;C) is how we indicate someone with a (A;C) genotype at snp rs1234.
However, this definition of 'genotype' varies a bit from the one intended when it first introduced over 100 years ago [10.1126/science.35.896.340], and even from the most common usage in genetics textbooks. Although genotype can refer to an individual's genetic constitution (as a whole), the most typical usage is to refer to the pair of alleles carried by an individual at a given locus (or gene). Alleles are classically defined by their protein products and mode of inheritance (e.g. dominant, recessive, etc.), but at a molecular level, alleles may also be defined by one or more co-inherited SNPs.
Notable genotypes
| Magnitude | Repute | Summary | |
|---|---|---|---|
| rs1801253(G;G) | 0 | Good | |
| rs1801253(C;C) | 1.1 | responds well to bucindolol; may also depend on rs1801252 | |
| rs17822931(C;C) | 2 | Wet earwax. Normal body odour. Normal colostrum. | |
| rs17822931(T;T) | 2.5 | Good | Dry earwax. No body odour. Likely Asian ancestry. Reduced colostrum. |
| rs16891982(C;C) | 1.1 | Good | generally non-European, but if European, 7x more likely to have black hair |
| rs16891982(G;G) | 1.1 | Generally European; Light skin; Possibly an increased risk of melanoma | |
| rs1426654(A;A) | 2.7 | probably light-skinned, European ancestry | |
| rs1426654(G;G) | 2.6 | probably darker-skinned, Asian or African ancestry | |
| rs351855(C;C) | 0 | Good | normal |
| rs351855(T;T) | 2.9 | Bad | 2x increased prostate cancer risk; among breast cancer patients, herceptin is less effective |
| rs713598(G;G) | 1.1 | Bad | Possibly unable to taste bitter in some foods. |
| rs713598(C;C) | 1.1 | Good | Can taste bitter. |
| rs1726866(C;C) | 0.1 | Good | can taste bitter |
| rs1726866(T;T) | 1.1 | possible unable to taste bitter | |
| rs2227564(T;T) | 0 | Good | common in clinvar |
| rs4680(G;G) | 2.5 | Good | (warrior) multiple associations, see details |
| rs4680(A;A) | 2.5 | Good | (worrier) advantage in memory and attention tasks |
| rs2476601(A;A) | 3.2 | Bad | 2x risk of rheumatoid arthritis and other autoimmune diseases |
| rs2476601(G;G) | 0 | Good | Normal risk for autoimmune disorders |
| rs3135506(G;G) | 0 | Good | common on affy axiom data |
| rs6265(G;G) | 0 | Good | common/normal |
| rs6265(A;A) | 2.6 | Bad | introversion; depression resistant; impaired motor skills learning; somewhat quicker mental decline in Alzheimer patients |
| rs4420638(G;G) | 3 | Bad | 2x+ increased Alzheimer's risk, further genotyping suggested ; increased LDL cholesterol |
| rs237025(C;T) | 0 | ||
| rs7903146(T;T) | 3.5 | Bad | 2x increased risk for Type-2 diabetes |
| rs429358(C;C) | 1.2 | Bad | one of 2 snps relevant to classifying APOE genotype |
| rs5082(C;C) | 2.5 | saturated fat contributes to obesity, but 0.57 % lower risk for coronary artery disease | |
| rs3816873(T;T) | 0 | Good | None |
| rs3816873(C;C) | 2.2 | Good | reduced risk of type-2 diabetes |
| rs3948464(T;T) | 0 | Good | common in clinvar |
| rs3948464(C;C) | 0 | ||
| rs5370(G;G) | 0 | common | |
| rs5370(T;T) | 1.2 | Bad | possibly lower HDL cholesterol in women |
| rs696217(G;G) | 0 | Good | common in clinvar |
| rs800292(C;C) | 2 | Bad | 5% higher risk of Age related macular degeneration |
| rs800292(T;T) | 2 | Good | 5% decreased risk of macular degeneration |
| rs7775(C;C) | 0 | ||
| rs7775(G;G) | 0 | ||
| rs1041981(A;A) | 2 | Bad | Higher myocardial infarction risk |
| rs11556045(A;A) | 0 | Good | common in clinvar |
| rs11556045(G;G) | 0 | Good | benign polymorphism |
| rs1800450(G;G) | 0 | Good | common in clinvar |
| rs1800450(A;A) | 1.6 | Bad | mannose binding deficiency but of low clinical importance |
| rs1801270(C;C) | 0 | Good | normal risk |
| rs2303067(G;G) | 0 | normal | |
| rs709932(G;G) | 0 | Good | common in clinvar |
| rs1045485(G;G) | 0 | Good | common/normal |
| rs1045485(C;C) | 2 | Good | Reduced Risk of Breast Cancer |
| rs1065852(C;C) | 0 | Good | normal |
| rs1065852(T;T) | 3.2 | Bad | Homozygous for CYP2D6 decreased or non-functioning variants; possibly less response to some drugs, including tamoxifen |
| rs2987983(C;C) | 2 | Bad | 1.2x increased risk of prostate cancer |
| rs2987983(C;T) | 2 | Bad | 1.2x increased risk of prostate cancer |
| rs2987983(T;T) | 0 | normal risk | |
| rs7412(C;C) | 1 | part of APOE4 genoset evaluation | |
| rs7412(T;T) | 1 | part of APOE4 genoset evaluation | |
| rs429358(T;T) | 0 | Good | common |
| rs324650(T;T) | 0.1 | ||
| rs662(A;A) | 2 | Bad | ~2x higher risk of of coronary heart disease reported in some studies, but lower risk seen in other studies |
| rs662(G;G) | 1.3 | Mixed; conflicting results reported related to stroke and CAD | |
| rs854560(A;A) | 2 | Bad | higher risk for heart disease, diabetic retinopathy |
| rs12026(C;C) | 0 | Good | common in clinvar |
| rs1799864(G;G) | 0 | Good | common in clinvar |
| rs6025(A;A) | 7 | Bad | 11.4x higher risk of thrombosis |
| rs6025(G;G) | 0 | Good | normal/common risk of thrombosis |
| rs2476601(A;G) | 2 | Bad | Increased Risk of Multiple Autoimmune Disorders |
| rs1061147(A;C) | 1 | Good | Normal 0.97x risk for Age Related Macular Degeneration. |
| rs1061170(C;T) | 2.5 | Bad | 2.5x risk for AMD; higher mortality among nonagenarians |
| rs4950928(G;C) | 2 | Good | Half the risk (maybe) of Asthma. |
| rs7903146(C;T) | 2.1 | Bad | 1.4x increased risk for diabetes (and perhaps colon cancer). |
| rs12255372(G;T) | 2 | Bad | 1.3x increased type-2 diabetes risk |
| rs1219648(A;G) | 2 | Bad | 1.20x risk for breast cancer |
| rs4430796(A;G) | 0 | normal risk | |
| rs1859962(G;T) | 0 | Good | normal risk |
| rs4633(C;T) | 2 | Bad | higher risk for endometrial cancer |
| rs175174(A;G) | 0 | ||
| rs16947(A;G) | 0.1 | a common variant | |
| rs4444903(A;G) | 2 | Bad | 3.5x risk of hep-cancer in cirrhosis patients; higher glioma risk |
| rs16891982(C;G) | 2 | if European, 7x more likely to have black hair | |
| rs11556045(A;G) | 0 | Good | benign polymorphism |
| rs1799971(A;G) | 2.5 | Bad | stronger cravings for alcohol. if alcoholic, naltrexone treatment 2x more successful |
| rs324650(A;T) | 0.1 | ||
| rs1726866(C;T) | 0.1 | can taste bitter | |
| rs713598(C;G) | 1.1 | Good | Can taste bitter. |
| rs6983267(G;T) | 2.7 | Bad | 1.3x risk of prostate cancer; aspirin reduces risk of colorectal cancer |
| rs1333040(C;T) | 0 | Bad | 1.24x increased myocardial infarction risk, ~1.24x increased intracranial aneurysm risk |
| rs2383206(A;G) | 2 | Bad | 1.4x increased risk for heart disease |
| rs4950928(C;C) | 1.9 | Bad | Normal (higher) risk of Asthma. |
| rs6602024(G;G) | 0 | Good | normal |
| rs806380(G;G) | 2.1 | Good | uncommon. lowest odds of cannabis dependence |
| rs908832(G;G) | 0 | Good | normal |
| rs2395029(T;T) | 0 | Good | common |
| rs3810682(G;G) | 0 | Good | common |
| rs28929768(T;T) | 0 | Good | common in clinvar |
| rs28999110(C;C) | 0 | Good | common in clinvar |
| rs28999111(C;C) | 0 | Good | common in clinvar |
| rs28999112(C;C) | 0 | Good | common in clinvar |
| rs28999114(A;A) | 0 | Good | common in clinvar |
| rs669(A;A) | 0 | Good | normal |
| rs669(G;G) | 2 | Bad | 3.8x or higher increased risk for Alzheimers |
| rs661(G;G) | 0 | Good | normal |
| ... further results | |||
