rs63751272
A SNP in the PSEN1 gene on chromosome 14. Its most notable genotype is A;C: Alzheimer's disease
- Gene
- PSEN1
- Location
- Chr 1473,173,587 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;CMost notableBadAlzheimer's disease
- A;TBadAlzheimer's disease
On SNPedia: (A;A), (A;C), (A;T). 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
rs63751272, also known as c.360A>C, c.360A>T, E120D, or p.Glu120Asp, is a SNP in the presenilin 1 PSEN1 gene. Inherited as an autosomal dominant, the rare rs63751272(T) and rs63751272(C) alleles are both considered pathogenic for early-onset Alzheimer's disease according to ClinVar, OMIM and/or AlzForum. 23andMe name for c.360A>T variant: i5047575 Glu120Asp is reported in to be a "definitely" pathogenic mutation.
A;C
see discussion at rs63751272
A;T
see discussion at rs63751272
Source and license
Adapted from rs63751272 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.