rs121917808
A SNP in the PSEN1 gene on chromosome 14. Its most notable genotype is A;C: Alzheimer's disease, early-onset, as reported
- Gene
- PSEN1
- Location
- Chr 1473,219,192 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;CMost notableBadAlzheimer's disease, early-onset, as reported
- C;CGoodcommon in clinvar
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 PSEN1 SNPs
- rs661A;Aearly onset Alzheimer's diseaseVery important
- rs63749885C;Tearly-onset Alzheimers diseaseVery important
- rs63749891C;Gearly-onset Alzheimers diseaseVery important
- rs63750577C;Tearly-onset Alzheimers diseaseVery important
- rs63750599C;Tearly-onset Alzheimers diseaseVery important
- rs63750815G;Tearly-onset Alzheimers diseaseVery important
- rs63750886C;Gearly-onset Alzheimers diseaseVery important
- rs63750900A;Gearly-onset Alzheimers diseaseVery important
Notes
From SNPedia
Notes
PSEN1 mutation, c.1307C>A, p.Pro436Gln, P436Q Listed in ClinVar, OMIM and AlzForum as pathogenic for early-onset Alzheimer's disease. Note that the clinical symptoms are reported to potentially include spastic spastic paraparesis (paraplegia).
A;C
see links via rs121917808
Source and license
Adapted from rs121917808 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.