rs61757781
A SNP in the PSEN2 gene on chromosome 1. Its most notable genotype is G;G: Carrier of possibly damaging mutation leading to Alzheimer's Disease
- Gene
- PSEN2
- Location
- Chr 1226,888,112 (GRCh38)
- Highest magnitude
- 1.5Minor
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodNormal
- A;GBadCarrier of possibly damaging mutation leading to Alzheimer's Disease
- G;GMost notableBadCarrier of possibly damaging mutation leading to Alzheimer's Disease
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
Met174Val (A > G) mutation; unclear if pathogenic, it is included in the Alzheimer Disease & Frontotemporal Dementia Mutation Database. Clinical manifestation : early onset Alzheimer's Disease Early literature classified this as pathogenic, the latest ones cast some doubts. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
Source and license
Adapted from rs61757781 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.