rs63750391
A SNP in the PSEN1 gene on chromosome 14. Its most notable genotype is A;G: Alzheimer's disease (reported; but see discussion)
- Gene
- PSEN1
- Location
- Chr 1473,173,665 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadAlzheimer's disease (reported; but see discussion)
- C;GBadAlzheimer's disease (reported; but see discussion)
- G;GGoodcommon in clinvar
- G;TBadAlzheimer's disease (reported; but see discussion)
On SNPedia: (A;G), (C;G), (G;G), (G;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
Located in the PSEN1 gene, rs63750306 represents the rare variant site where all three possible single nucleotide mutations are known and considered pathogenic. The c.438G>A, c.438G>C and c.438G>T variants are all also known as p.Met146ILe or M146I. All three mutations are considered dominantly inherited pathogenic mutations leading to early-onset Alzheimer's disease, at least according to AlzForum, but no citations are provided. In ClinVar, the G>A and G>T variants are (somewhat) annotated as pathogenic. The G>A variant is reported in to be a "definitely" pathogenic mutation.
A;G
see rs63750391
C;G
see rs63750391
G;T
see rs63750391
Source and license
Adapted from rs63750391 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.