rs63749851
A SNP in the PSEN2 gene on chromosome 1. Its most notable genotype is A;C: Early-onset Alzheimer's disease
- Gene
- PSEN2
- Location
- Chr 1226,885,545 (GRCh38)
- Highest magnitude
- 9.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;A), (A;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PSEN2 SNPs
- rs28936379A;Gearly-onset Alzheimers diseaseVery important
- rs28936380C;Gearly-onset Alzheimer's diseaseVery important
- rs63750215A;Tearly-onset Alzheimer's diseaseVery important
- rs61761208A;TEarly-onset Alzheimer's mutation (reported)Very important
- rs63749884A;Gearly-onset Alzheimer's disease; penetrance not 100%Very important
- rs63750666C;Tearly-onset Alzheimer's disease; penetrance unclearVery important
- rs200754713A;GFrontotemporal dementia (reported)Very important
- rs367855127C;TPossible early-onset Alzheimer's disease mutation; see discussionVery important
Notes
From SNPedia
Notes
rs63749851, also known as c.364A>C, T122P or Thr122Pro, is a SNP in the presenilin 2 PSEN2 gene. Inherited as an autosomal dominant, the rare rs63749851(C) allele is considered causative for early-onset Alzheimer's disease, as reported in . If you are aware of individuals carrying this allele who are past the age of 50 and who are not Alzheimer patients, please let us know. This mutation is also reported as pathogenic in ClinVar, AlzForum and listed as "probably" pathogenic in .
A;C
The rs63749851(C) allele is published as a causative allele for early-onset Alzheimer's disease. See the discussion on the rs63749851 webpage here in SNPedia.
Source and license
Adapted from rs63749851 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.