rs63750110
A SNP in the PSEN2 gene on chromosome 1. Its most notable genotype is A;C: early-onset Alzheimer's disease? or just a benign variant?
- Gene
- PSEN2
- Location
- Chr 1226,895,548 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;CMost notableBadearly-onset Alzheimer's disease? or just a benign variant?
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
- rs63749851A;CEarly-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
Notes
From SNPedia
Show notes, about 160 words
rs63750110, also known as c.1316A>C, D439A or Asp439Ala, represent a very rare variant in the presenilin 2 PSEN2 gene. Inherited as an autosomal dominant, the rare rs63750110(C) allele was reported in 2001/2002 as causative for early-onset Alzheimer's disease; see . More recent studies (in 2015 and 2016) are casting doubt on the penetrance of this mutation. One publication ( feels that the D439A variant is likely to be a "rare, benign polymorphism", and another sees it in a person not known to have Alzheimer's (however age at death was unknown). Currently (2016), the AlzForum entry currently lists D439A as having "unclear pathogenicity" and ClinVar now lists this as having "uncertain significance", however, OMIM retains the "pathogenic" listing.
A;C
The rs63750110(C) allele was thought to lead to early-onset Alzheimer's disease; more recent studies cast doubt on this. See the references cited on the rs63750110 webpage here in SNPedia for full details.
Source and license
Adapted from rs63750110 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.