rs63750973
A SNP in the APP gene on chromosome 21. Its most notable genotype is A;G: Considered pathogenic for an early-onset form of Alzheimer's disease
- Gene
- APP
- Location
- Chr 2125,891,792 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GMost notableBadConsidered pathogenic for an early-onset form of Alzheimer's disease
SNPedia records rs63750973 on the minus strand: (C;C), (C;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
- 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
- rs63750579C;TCerebral Amyloid AngiopathyVery important
Notes
From SNPedia
Notes
rs63750973, also known as c.2141C>T, p.Thr714Ile or T714I, represents a rare mutation in the APP gene. Inherited dominantly, the rare minor allele is considered pathogenic for an aggressive, early-onset form of Alzheimer's disease; for more information, see ClinVar, AlzForum or OMIM.
A;G
see discussion at rs63750973
Source and license
Adapted from rs63750973 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.