rs63750812
A SNP in the PSEN2 gene on chromosome 1. Its most notable genotype is A;G: Alzheimer's disease association reported; see discussion
- Gene
- PSEN2
- Location
- Chr 1226,885,623 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;G), (G;G). 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
Notes
rs63750812, also known as V148I or Val148Ile, is a SNP in the presenilin PSEN2 gene. Inherited as an autosomal dominant, the rare rs63750812(A) allele is reported to be causative for early-onset Alzheimer's disease. However, the AlzForum also reports that "No change in proteolytic products PSEN2-CTF and PSEN2-NTF; no change in Aβ42 levels or the Aβ42/Aβ40 ratio", and in combination with the original report, this allele may be more of a predisposing than causative mutation.
A;G
Possible though unconfirmed Alzheimer's mutation; see discussion at rs63750812.
Source and license
Adapted from rs63750812 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.