rs63751039
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 2125,891,855 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodcommon in clinvar
- C;TMost notableBadSignificantly increased risk for Alzheimer's disease
SNPedia records rs63751039 on the minus strand: (A;A), (A;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
Notes
rs63751039, also known as c.2078A>G, p.Glu693Gly and E693G, represents a rare mutation in the APP gene. Inherited dominantly, the minor allele is considered pathogenic for a form of Alzheimer's disease, with onset between 50 - 65 years. For more information, see OMIM, ClinVar or AlzForum. Reported in as a "definitely" pathogenic mutation for early-onset Alzheimer's disease.
C;T
see discussion at rs63751039
Source and license
Adapted from rs63751039 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.