rs63750579
A SNP in the APP gene on chromosome 21. Its most notable genotype is C;T: Cerebral Amyloid Angiopathy
- Gene
- APP
- Location
- Chr 2125,891,856 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadCerebral Amyloid Angiopathy
- C;GBadCerebral Amyloid Angiopathy
- C;CGoodcommon in clinvar
SNPedia records rs63750579 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
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
APP gene mutations: either c.2077G>A, p.Glu693Lys and E693K, or, c.2077G>C, p.Glu693Gln and E693Q. The former is also known as the 'Italian' variant and the latter as the 'Dutch' variant. Both are reported in OMIM and AlzForum as pathogenic for cerebral amyloid angiopathy; the Italian variant is reported to have an onset at a significantly later age than the Dutch variant.
C;T
see discussion and links at rs63750579
C;G
see discussion and links at rs63750579
Source and license
Adapted from rs63750579 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.