rs63750671
A SNP in the APP gene on chromosome 21. Its most notable genotype is C;G: Significantly increased risk for early-onset Alzheimer's disease
- Gene
- APP
- Location
- Chr 2125,891,858 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- C;GMost notableBadSignificantly increased risk for early-onset Alzheimer's disease
SNPedia records rs63750671 on the minus strand: (C;C), (C;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other APP SNPs
- rs63750973A;GConsidered pathogenic for an early-onset form of Alzheimer's diseaseVery important
- rs281865161GA;TCAlzheimer's disease, familialVery important
- rs63749810C;TEarly-onset Alzheimer's diseaseVery important
- rs63749964A;CLikely miscall in 23andMe v4 data; otherwise, Alzheimer's disease pathogenic mutationVery important
- rs63750066C;TEarly-onset Alzheimer's diseaseVery important
- rs63750151C;GAlzheimer's diseaseVery important
- rs63750264C;TAlzheimer's disease mutationVery important
- rs63750399C;TMutation considered pathogenic for Alzheimer diseaseVery important
Notes
From SNPedia
Show notes, about 180 words
rs63750671, also known as c.2075C>G, p.Ala692Gly and A692G, represents a rare mutation in the APP gene. Known as the Flemish mutation, and inherited dominantly, the rare minor allele is considered pathogenic for either early-onset Alzheimer's disease or cerebral amyloid angiopathy. More information can be found in ClinVar, OMIM and AlzForum. Reported in as a "definitely" pathogenic mutation for early-onset Alzheimer's disease. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation. Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion. Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692). In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease.
C;G
see discussion at rs63750671
Source and license
Adapted from rs63750671 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.