Genotype
From SNPedia
The two alleles inherited at a given SNP 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
See also Help_(magnitude)
Notable genotypes
| Magnitude | Repute | Summary | |
|---|---|---|---|
| I4000377(D;D) | 10 | Bad | BRCA1 (breast cancer) 185delAG homozygous carrier |
| I4000378(I;I) | 10 | Bad | BRCA1 (breast cancer) 5382insC |
| I4000377(D;I) | 10 | Bad | BRCA1 (breast cancer) 185delAG carrier |
| I4000378(D;I) | 9 | Bad | BRCA1 (breast cancer) 5382insC heterozygous carrier |
| Rs28940871(G;G) | 9 | Bad | Tay-Sachs disease likely; see details |
| Rs112176450(A;A) | 8 | Bad | Late-onset Parkinson's disease |
| Rs28934578(A;A) | 8 | Bad | Li-Fraumeni syndrome (an inherited cancer predisposition) |
| Rs112176450(A;G) | 8 | Bad | Late-onset Parkinson's disease |
| Rs113993960(-;-) | 8 | Bad | Cystic Fibrosis; homozygote for delta F-508 mutation |
| Rs111290936(T;T) | 8 | Bad | Late-onset Parkinson's disease (likely) |
| Rs104886461(G;G) | 8 | Bad | Mucolipidosis type IV |
| Rs111290936(C;T) | 8 | Bad | Late-onset Parkinson's disease (likely) |
| Rs28934578(A;G) | 8 | Bad | Li-Fraumeni syndrome (an inherited cancer predisposition) |
| Rs17847577(T;T) | 7.5 | Bad | Werner's Syndrome |
| Rs15793179(A;A) | 6 | normal, for chickens | |
| I4000419(A;A) | 6 | Bad | Gaucher's disease |
| Rs3758650(A;A) | 6 | Bad | 6x increased risk for gallstone disease in Taiwanese/Chinese |
| Rs15793179(A;C) | 6 | carrier, also a chicken | |
| Rs35095275(A;A) | 6 | Bad | risk allele, but prone to genotyping confusion |
| Rs421016(T;T) | 6 | Bad | Gaucher disease, type II or IIIl? Parkinson's disease risk? |
| Rs15793179(C;C) | 6 | deadly mutation for chickens | |
| I4000415(C;C) | 6 | Bad | Gaucher's disease |
| I4000417(G;G) | 6 | Bad | Gaucher's disease |
| Rs5030849(A;A) | 6 | Bad | PHENYLKETONURIA, MILD |
| Rs113993961(C;C) | 6 | Bad | Werner syndrome; homozygote for transversion mutation |
| I4000386(A;A) | 6 | Bad | Gaucher's disease |
| Rs28940871(C;G) | 5 | Bad | Tay-Sachs carrier |
| Rs118204099(G;G) | 5 | Bad | Porphyria, acute intermittent |
| Rs12948217(A;A) | 5 | Bad | Canavan disease |
| Rs118204116(A;A) | 5 | Bad | Porphyria, acute intermittent |
| Rs118204110(A;A) | 5 | Bad | Porphyria, acute intermittent |
| Rs118204120(T;T) | 5 | Bad | Porphyria, acute intermittent |
| Rs118204101(T;T) | 5 | Bad | Porphyria, acute intermittent |
| Rs118204112(A;A) | 5 | Bad | Porphyria, acute intermittent |
| Rs118204103(A;A) | 5 | Bad | Porphyria, acute intermittent |
| Rs112019125(T;T) | 5 | Bad | Possible late-onset Parkinson's disease variant |
| Rs67666821(T;T) | 5 | Bad | CYP3A4*20 homozygote; side effects likely from many drugs |
| Rs118204105(A;A) | 5 | Bad | Porphyria, acute intermittent |
| Rs112019125(G;T) | 5 | Bad | Possible late-onset Parkinson's disease variant |
| Rs118204117(A;A) | 5 | Bad | Porphyria, acute intermittent |
| Rs118204098(A;A) | 5 | Bad | Porphyria, acute intermittent |
| Rs118204094(T;T) | 5 | Bad | Porphyria, acute intermittent |
| Rs28940574(A;A) | 5 | Bad | Canavan disease |
| Rs118204109(T;T) | 5 | Bad | Porphyria, acute intermittent |
| Rs118204114(T;T) | 5 | Bad | Porphyria, acute intermittent |
| I4000305(A;A) | 5 | Bad | a treatable form of cystic fibrosis |
| Rs118204097(T;T) | 5 | Bad | Porphyria, acute intermittent |
| Rs118204111(C;C) | 5 | Bad | Porphyria, acute intermittent |
| Rs5030849(A;G) | 5 | Bad | PHENYLKETONURIA, MILD |
| Rs118204107(A;A) | 5 | Bad | Porphyria, acute intermittent |
| Rs12720459(C;T) | 5 | Bad | LQT1 form of Long QT syndrome |
| Rs113169049(A;C) | 5 | Bad | Possible late-onset Parkinson's disease variant |
| Rs75527207(A;A) | 5 | Bad | Double homozygote for cystic fibrosis G551D allele |
| I3003626(D;D) | 5 | Good | resistant to HIV |
| Rs118204100(A;A) | 5 | Bad | Porphyria, acute intermittent |
| Rs1801175(T;T) | 5 | Bad | Glycogen storage disease, type 1A |
| Rs118204108(G;G) | 5 | Bad | Porphyria, acute intermittent |
| Rs113388242(C;T) | 5 | Bad | Possible late-onset Parkinson's disease variant |
| Rs334(T;T) | 5 | Bad | sickle cell anemia |
| Rs28940868(A;A) | 5 | Bad | likely to have Pompe disease |
| Rs118204104(A;A) | 5 | Bad | Porphyria, acute intermittent |
| Rs113388242(T;T) | 5 | Bad | Possible late-onset Parkinson's disease variant |
| Rs118204113(A;A) | 5 | Bad | Porphyria, acute intermittent |
| I3000001(D;D) | 5 | Bad | Cystic Fibrosis |
| Rs12720459(T;T) | 5 | Bad | LQT1 form of Long QT syndrome |
| Rs118204096(A;A) | 5 | Bad | Porphyria, acute intermittent |
| Rs41309764(C;T) | 5 | Bad | Congenital heart disease and valve calcification likely |
| Rs28934895(C;C) | 5 | Bad | Maple syrup urine disease |
| Rs118204106(T;T) | 5 | Bad | Porphyria, acute intermittent |
| Rs118204115(A;A) | 5 | Bad | Porphyria, acute intermittent |
| Rs113169049(C;C) | 5 | Bad | Possible late-onset Parkinson's disease variant |
| Rs41309764(T;T) | 5 | Bad | Congenital heart disease and valve calcification |
| Rs118204095(A;A) | 5 | Bad | Porphyria, acute intermittent |
| Rs28940279(C;C) | 5 | Bad | Canavan disease |
| Rs1135824(G;G) | 4.5 | Bad | Two copies of CYP2D6*3B non-functioning variant |
| Rs77375493(G;T) | 4 | Bad | JAK2-V617F variant present |
| Rs334(A;T) | 4 | carrier of, but unaffected by, sickle cell anemia; greater malaria resistance | |
| Rs1800497(T;T) | 4 | A1/A1 bupropion ineffective, diminished pleasure response; 2.4x increased risk for adenoma recurrence | |
| Rs11466024(A;A) | 4 | FAMILIAL MEDITERRANEAN FEVER | |
| I3000001(D;I) | 4 | Cystic Fibrosis carrier | |
| Rs80358247(G;G) | 4 | Bad | Nemaline Myopathy 1 |
| Rs121908287(C;C) | 4 | homozygote for I41T partial function variant | |
| Rs8192466(T;T) | 4 | Bad | None |
| Rs28940870(A;C) | 4 | type II hereditary angioedema | |
| Rs121909520(G;G) | 4 | Bad | Nemaline Myopathy 3 |
| Rs104894129(A;A) | 4 | Bad | Nemaline Myopathy 4 |
| Rs17107315(C;C) | 4 | Bad | risk of pancreatitits |
| Rs5742904(A;A) | 4 | Hypercholesterolemia, Type B; homozygote | |
| Rs28931568(A;A) | 4 | high risk of emphysema | |
| I5007146(A;T) | 4 | ||
| Rs113993959(T;T) | 4 | Cystic Fibrosis; homozygote for G542X mutation | |
| Rs738409(G;G) | 4 | Bad | higher odds of alcoholic liver disease, increased liver fat |
| Rs118204105(A;C) | 4 | Bad | Porphyria, acute intermittent |
| Rs118204107(A;G) | 4 | Bad | Porphyria, acute intermittent |
| Rs137853966(-;-) | 4 | dominant mutation leading to Familial Hypercholesterolemia | |
| Rs118204094(C;T) | 4 | Bad | Porphyria, acute intermittent |
| Rs118204109(C;T) | 4 | Bad | Porphyria, acute intermittent |
| Rs4363657(C;C) | 4 | Bad | 17x increased myopathy risk for statin users |
| Rs118204119(C;T) | 4 | Bad | Carrier for porphyria, acute intermittent |
| Rs77375493(T;T) | 4 | Bad | JAK2-V617F variant present |
| … further results | |||
