rs193922916
A SNP in the APP gene on chromosome 21. Its most notable genotype is A;A: significantly increased alzheimer's risk
- Gene
- APP
- Location
- Chr 2125,897,619 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GBadCarrier of an Alzheimer's disease mutation
- A;AMost notableBadsignificantly increased alzheimer's risk
SNPedia records rs193922916 on the minus strand: (C;C), (C;T), (T;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
- rs63750399C;TMutation considered pathogenic for Alzheimer diseaseVery important
Notes
From SNPedia
Notes
rs193922916, also known as c.2018C>T, p.Ala673Val and A673V, represents a rare mutation in the APP gene on chromosome 21. Most APP mutations leading to Alzheimer's disease are inherited dominantly, but A673V is an exception, as it appears to be inherited recessively. For more information about this mutation, see either AlzForum or OMIM. 23andMe name: i5004476
A;G
Likely to be unaffected in absence of another APP or Alzheimer mutation, as this mutation appears to be inherited recessively. See rs193922916 for more information.
A;A
see discussion and links via rs193922916
Source and license
Adapted from rs193922916 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.