rs63750730
A SNP in the PSEN1 gene on chromosome 14. Its most notable genotype is A;C: Alzheimer's disease (reported)
- Gene
- PSEN1
- Location
- Chr 1473,173,574 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;CMost notableBadAlzheimer's disease (reported)
- C;CGoodcommon/normal
- C;TBadAlzheimer's disease (reported)
On SNPedia: (A;C), (C;C), (C;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
rs63750730, also known as c.236C>A, T116N or Thr116Asn, and also as c.347C>T, p.Thr116Ile or T116I, is a SNP in the presenilin 1 PSEN1 gene. Inherited as an autosomal dominant, the rare rs63750730(T) and rs63750730(A) alleles are both considered pathogenic for early-onset Alzheimer's disease according to AlzForum. Both are reported in to be a "definitely" pathogenic mutation.
A;C
see discussion at rs63750730
C;T
see discussion at rs63750730
Source and license
Adapted from rs63750730 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.