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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.

See also Magnitude and Repute

Notable genotypes

 MagnitudeReputeSummary
i4000378(I;I)10BadBRCA1 (breast cancer) 5382insC
rs104894085(T;T)9.1BadLipoid congenital adrenal hyperplasia (LCAH); treatment required
rs104894089(A;A)9.1BadLipoid congenital adrenal hyperplasia (LCAH); treatment required
rs193922393(-;-)9.1BadLipoid congenital adrenal hyperplasia (LCAH); treatment required
rs104894086(T;T)9.1BadLipoid congenital adrenal hyperplasia (LCAH); treatment required
rs137852689(C;C)9.1BadLipoid congenital adrenal hyperplasia (LCAH); treatment required
rs387907235(T;T)9.1BadLipoid congenital adrenal hyperplasia (LCAH); treatment required
rs104894090(T;T)9.1BadLipoid congenital adrenal hyperplasia (LCAH); treatment required
rs137852690(T;T)9.1BadLipoid congenital adrenal hyperplasia (LCAH); treatment required
rs104894086(A;A)9.1BadLipoid congenital adrenal hyperplasia (LCAH); treatment required
rs104894087(A;A)9.1BadLipoid congenital adrenal hyperplasia (LCAH); treatment required
rs267607035(A;A)9BadPontocerebellar hypoplasia type 2D
rs34424986(T;T)9BadEarly-onset (juvenile) Parkinson's disease likely
rs63751320(A;C)9Badearly-onset Alzheimers disease
rs200649783(A;A)9BadOrofaciodigital syndrome likely
rs398122418(C;T)9BadPrader-Willi-like syndrome; Schaaf-Yang syndrome
rs74315405(C;T)9BadGerstmann–Straussler–Scheinker syndrome
rs137853058(A;A)9BadEarly-onset (juvenile) Parkinson's disease likely
rs587777465(C;C)9BadPontocerebellar hypoplasia type 2E
rs267607036(G;G)9BadPontocerebellar hypoplasia type 2D
rs398122416(-;C)9BadPrader-Willi-like syndrome; Schaaf-Yang syndrome
rs63750048(C;T)9Badearly-onset Alzheimers disease (atypical)
rs587777466(T;T)9BadPontocerebellar hypoplasia type 2E
rs63751223(C;G)9Badearly-onset Alzheimers disease
rs773876739(C;C)9BadPontocerebellar hypoplasia type 2D
rs63751163(C;T)9Badearly-onset Alzheimers disease
rs63751037(A;G)9Badearly-onset Alzheimers disease
rs397514694(T;T)9BadEarly-onset (juvenile) Parkinson's disease likely
rs63750815(G;T)9Badearly-onset Alzheimers disease
rs63750215(A;T)9Badearly-onset Alzheimer's disease
rs137973334(T;T)9BadLipoyltransferase 1 deficiency
rs28942089(C;T)9BadDenys-Drash syndrome
rs869025342(G;G)9BadInfantile hypotonia with psychomotor retardation
rs28941778(A;G)9BadDenys-Drash syndrome
rs137891647(G;G)9BadLipoyltransferase 1 deficiency (severe)
rs63750599(C;T)9Badearly-onset Alzheimers disease
rs200322968(T;T)9BadOrofaciodigital syndrome likely
rs779709646(T;T)9BadSmith-Lemli-Opitz syndrome
rs80338859(T;T)9BadMiscall for 23andMe customers; otherwise, Smith-Lemli-Opitz syndrome
rs63751229(C;T)9Badearly-onset Alzheimers disease
rs63751144(A;C)9Badearly-onset Alzheimers disease
rs137853055(T;T)9BadEarly-onset (juvenile) Parkinson's disease likely
rs267606795(C;C)9BadRaine syndrome
rs28936379(A;G)9Badearly-onset Alzheimers disease
rs373900644(T;T)9BadOrofaciodigital syndrome likely
rs114925667(A;A)9Badearly infantile epileptic encephalopathy-44
rs63750577(C;T)9Badearly-onset Alzheimers disease
rs661(A;G)9Badearly-onset Alzheimers disease
rs137853056(A;A)9BadEarly-onset (juvenile) Parkinson's disease likely
rs137853060(T;T)9BadEarly-onset (juvenile) Parkinson's disease likely
rs398122417(-;AT)9BadPrader-Willi-like syndrome; Schaaf-Yang syndrome
rs751037529(G;G)9BadEarly-onset (juvenile) Parkinson's disease likely
rs63750900(A;G)9Badearly-onset Alzheimers disease
rs397518439(T;T)9BadEarly-onset (juvenile) Parkinson's disease likely
rs63749891(C;G)9Badearly-onset Alzheimers disease
rs786205156(G;G)9BadLipoyltransferase 1 deficiency (severe)
rs149989682(A;A)9BadSurfactant metabolism dysfunction, pulmonary, 3; severe neonatal condition
rs28941779(C;T)9BadFrasier syndrome mutation
rs150681845(A;A)9BadOrofaciodigital syndrome likely
rs63750886(C;G)9Badearly-onset Alzheimers disease
rs28936380(C;G)9Badearly-onset Alzheimer's disease
rs398122415(-;T)9BadPrader-Willi-like syndrome; Schaaf-Yang syndrome
rs770374710(-;G)9BadPrader-Willi-like syndrome; Schaaf-Yang syndrome
rs137853054(G;G)9BadEarly-onset (juvenile) Parkinson's disease likely
rs63749851(A;C)9BadEarly-onset Alzheimer's disease
rs63751068(G;T)9BadPicks disease of the brain
rs767568897(T;T)9BadLipoyltransferase 1 deficiency (severe)
rs63749885(C;T)9Badearly-onset Alzheimers disease
rs137853059(A;A)9BadEarly-onset (juvenile) Parkinson's disease likely
rs661(A;A)9Badearly onset Alzheimer's disease
rs63751141(C;G)9Badearly-onset Alzheimers disease
rs63751235(C;G)9Badearly-onset Alzheimers disease
i4000378(D;I)9BadBRCA1 (breast cancer) 5382insC heterozygous carrier
rs201662623(C;C)9BadOrofaciodigital syndrome likely
rs137853057(T;T)9BadEarly-onset (juvenile) Parkinson's disease likely
rs74315359(T;T)8.9BadParkinson's disease, type 6, early-onset
rs74315357(T;T)8.9BadParkinson's disease, type 6, early-onset
rs28940284(A;A)8.9BadParkinson's disease, type 6, early-onset
rs45539432(T;T)8.9BadParkinson's disease, type 6, early-onset; likely
rs730880302(TTAG;TTAG)8.9BadParkinson's disease, type 6, early-onset
rs119451946(T;T)8.9BadParkinson's disease, type 6, early-onset; likely
rs28940285(C;C)8.9BadParkinson's disease, type 6, early-onset
rs74315355(A;A)8.9BadParkinson's disease, type 6, early-onset
rs756677845(-;-)8.9BadParkinson's disease, type 6, early-onset
rs74315358(A;A)8.9BadParkinson's disease, type 6, early-onset
rs74315360(A;A)8.9BadParkinson's disease, type 6, early-onset
rs74315356(A;A)8.9BadParkinson's disease, type 6, early-onset
rs121964976(C;C)8.8BadGlycine encephalopathy; Non-ketotic hyperglycinemia
rs121964977(T;T)8.8BadGlycine encephalopathy; Non-ketotic hyperglycinemia
rs63750265(C;T)8.8BadAlzheimer's disease, early-onset (reported)
rs63751287(A;G)8.8BadAlzheimer's disease, early-onset (reported)
rs121964975(-;-)8.8BadGlycine encephalopathy; Non-ketotic hyperglycinemia
rs63750301(C;T)8.8BadAlzheimer's disease, early-onset (reported)
rs121964979(T;T)8.8BadGlycine encephalopathy; Non-ketotic hyperglycinemia
rs63749891(G;T)8.8BadAlzheimer's disease, early-onset (reported)
rs63750227(A;G)8.8BadAlzheimer's disease, early-onset (reported)
rs386833549(C;C)8.8BadGlycine encephalopathy; Non-ketotic hyperglycinemia
rs121964980(A;A)8.8BadGlycine encephalopathy; Non-ketotic hyperglycinemia
rs386833550(A;A)8.8BadGlycine encephalopathy; Non-ketotic hyperglycinemia
rs121964978(C;C)8.8BadGlycine encephalopathy; Non-ketotic hyperglycinemia
... further results