rs200754713
A SNP in the PSEN2 gene on chromosome 1. Its most notable genotype is A;G: Frontotemporal dementia (reported)
- Gene
- PSEN2
- Location
- Chr 1226,888,954 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon/normal
- A;GMost notableBadFrontotemporal dementia (reported)
On SNPedia: (A;A), (A;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
- rs367855127C;TPossible early-onset Alzheimer's disease mutation; see discussionVery important
Notes
From SNPedia
Notes
rs200754713, also known as c.692A>G, Y231C or Tyr231Cys, is a SNP in the presenilin 2 PSEN2 gene. The rare rs200754713(G) allele is considered pathogenic as an autosomal dominant for Frontotemporal dementia; a patient with this allele was described as exhibiting behavioral abnormalities and language impairment.. See also AlzForum.
A;G
see discussion at rs200754713
Source and license
Adapted from rs200754713 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.