rs63750399
A SNP in the APP gene on chromosome 21. Its most notable genotype is C;T: Mutation considered pathogenic for Alzheimer disease
- Gene
- APP
- Location
- Chr 2125,891,787 (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 notableBadMutation considered pathogenic for Alzheimer disease
- A;TBadMutation considered pathogenic for Alzheimer disease
SNPedia records rs63750399 on the minus strand: (A;A), (A;G), (A;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
- rs63750264C;TAlzheimer's disease mutationVery important
- rs63750579C;TCerebral Amyloid AngiopathyVery important
Notes
From SNPedia
Notes
rs63750399 represents two mutations in the APP gene. The c.2146A>G is also known as p.Ile716Val or I716V; the c.2146A>T mutation is also known as p.Ile716Phe or I716F. Both mutations are considered dominantly inherited pathogenic mutations leading to Alzheimer's disease. For information about I716V, see AlzForum or OMIM; for information about I716F, see AlzForum.
C;T
see discussion at rs63750399
A;T
see discussion at rs63750399
Source and license
Adapted from rs63750399 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.