rs533813519
A SNP in the PSEN2 gene on chromosome 1. Its most notable genotype is A;C: Early-onset Alzheimer's disease (predicted as possible)
- Gene
- PSEN2
- Location
- Chr 1226,888,097 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;CMost notableBadEarly-onset Alzheimer's disease (predicted as possible)
- C;CGoodcommon/normal
On SNPedia: (A;C), (C;C). 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
aka c.505C>A, p.His169Asn or H169N The rare rs533813519(C) mutation in the PSEN2 gene was observed in a female Korean patient with early-onset Alzheimer's disease and was considered to be associated and most likely inherited in an autosomal dominant manner.
A;C
See discussion on main rs-page; note publication is based on (only) a single patient.
Source and license
Adapted from rs533813519 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.