rs63750197
A SNP in the PSEN2 gene on chromosome 1. Its most notable genotype is C;T: likely miscall for 23andMe and Ancestry users; otherwise, possible Alzheimer's disease association but causation unclear; dilated cardiomyopathy
- Gene
- PSEN2
- Location
- Chr 1226,885,570 (GRCh38)
- Highest magnitude
- 6.6Very important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadlikely miscall for 23andMe and Ancestry users; otherwise, possible Alzheimer's disease association but causation unclear; dilated cardiomyopathy
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
- rs63750666C;Tearly-onset Alzheimer's disease; penetrance unclearVery important
- rs200754713A;GFrontotemporal dementia (reported)Very important
Notes
From SNPedia
Show notes, about 180 words
rs63750197, also known as S130L or Ser130Leu, is a SNP in the presenilin 2 PSEN2 gene. Although based on small numbers of patients, the rare rs63750197(T) allele has been reported to be associated with both Alzheimer's disease and a form of dilated cardiomyopathy., However, the Alzheimer pathogenicity is considered "unclear", and while the evidence for involvement with dilated cardiomyopathy evidence is strong, the condition has incomplete penetrance. An excellent overview of research to date on this mutation is here on the AlzForum. Additionally, Promethease reports from 23andMe customers, and more recently, Ancestry users, have a significantly higher frequency of (C;T) genotype calls than would be expected based on the rarity of this mutation. It is therefore likely that this genotype is being miscalled for a high percentage of 23andMe users. If customers with data from other companies, especially ones using Illumina DNA arrays, see a (C;T) genotype call in their data or in their Promethease report they are asked to contact us.
C;T
See discussion on the rs63750197 webpage here in SNPedia.
Source and license
Adapted from rs63750197 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.