rs63749964
A SNP in the APP gene on chromosome 21. Its most notable genotype is A;C: Likely miscall in 23andMe v4 data; otherwise, Alzheimer's disease pathogenic mutation
- Gene
- APP
- Location
- Chr 2125,891,783 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- A;CMost notableBadLikely miscall in 23andMe v4 data; otherwise, Alzheimer's disease pathogenic mutation
- A;AGoodcommon in clinvar
SNPedia records rs63749964 on the minus strand: (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
- 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
- rs63750579C;TCerebral Amyloid AngiopathyVery important
Notes
From SNPedia
Notes
c.2150T>G, p.Val717Gly, V717G AlzForum
A;C
Although reported reasonably credibly in the scientific literature as a dominant mutation leading to Alzheimer's disease, Promethease users with raw data from the 23andMe v4 chip appear to have this genotype reported more frequently than public databases would predict (or than is seen in raw data from other companies). Anyone with follow-on confirmatory testing (positive or negative) for this genotype is encouraged to contact us. See links via rs63749964
Source and license
Adapted from rs63749964 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.