rs63750064
A SNP in the APP gene on chromosome 21. Its most notable genotype is C;T: Significantly increased risk for Alzheimer's disease
- Gene
- APP
- Location
- Chr 2125,897,605 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadSignificantly increased risk for Alzheimer's disease
- C;GBadSignificantly increased risk for Alzheimer's disease
- C;CGoodcommon/normal
SNPedia records rs63750064 on the minus strand: (A;G), (C;G), (G;G). 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
- 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
Notes
rs63750064, also known as D678H and D678N, represents two rare mutations in the APP gene. The G>C mutation for this SNP leads to D678H, apparently associated with early-onset Alzheimer's disease, inherited dominantly, although perhaps based on only one publication.AlzForum The G>A mutation for this SNP leads to D678N, apparently also associated with early-onset Alzheimer's disease, inherited dominantly, and also based on only one publication.AlzForum
C;T
see discussion at rs63750064
C;G
see discussion at rs63750064
Source and license
Adapted from rs63750064 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.