rs63750264
A SNP in the APP gene on chromosome 21. Its most notable genotype is C;T: Alzheimer's disease mutation
- Gene
- APP
- Location
- Chr 2125,891,784 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadAlzheimer's disease mutation
- C;GBadAlzheimer's disease mutation
- C;CGoodcommon in complete genomics
- A;CBadAlzheimer's disease mutation
SNPedia records rs63750264 on the minus strand: (A;G), (C;G), (G;G), (G;T). 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
- rs63750399C;TMutation considered pathogenic for Alzheimer diseaseVery important
- rs63750579C;TCerebral Amyloid AngiopathyVery important
Notes
From SNPedia
Notes
Located in the APP gene, rs63750264 represents the rare variant site where all three possible single nucleotide mutations are known and considered pathogenic. The c.2149G>T is also known as p.Val717Phe or V717F; the c.2149G>A mutation is also known as p.Val717Ile or V716I; and the c.2149G>C mutation is known as p.Val717Leu or V717L. All three mutations are considered dominantly inherited pathogenic mutations leading to early-onset Alzheimer's disease and are listed in OMIM and AlzForum.
C;T
see discussion at rs63750264
C;G
see discussion at rs63750264
A;C
see discussion at rs63750264
Source and license
Adapted from rs63750264 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.