rs63750666
A SNP in the PSEN2 gene on chromosome 1. Its most notable genotype is C;T: early-onset Alzheimer's disease; penetrance unclear
- Gene
- PSEN2
- Location
- Chr 1226,895,521 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadearly-onset Alzheimer's disease; penetrance unclear
On SNPedia: (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 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
- rs200754713A;GFrontotemporal dementia (reported)Very important
- rs367855127C;TPossible early-onset Alzheimer's disease mutation; see discussionVery important
Notes
From SNPedia
Notes
rs63750666, also known as c.1289C>T, T430M or Thr430Met, is a SNP in the presenilin 2 PSEN2 gene. Acting as an autosomal dominant, the rare rs63750666(T) allele has been suggested to lead to early-onset Alzheimer's disease. However, a sibling who shared this mutation with an Alzheimer's patient did not show signs of early-onset disease, so this mutation may have reduced penetrance.
C;T
See discussion at rs63750666. It is unclear how definitive the link is between this SNP and early-onset Alzheimers.
Source and license
Adapted from rs63750666 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.