rs63750306
A SNP in the PSEN1 gene on chromosome 14. Its most notable genotype is A;C: Alzheimer's disease
- Gene
- PSEN1
- Location
- Chr 1473,173,663 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;CMost notableBadAlzheimer's disease
- A;GBadAlzheimer's disease
- A;TBadAlzheimer's disease
On SNPedia: (A;A), (A;C), (A;G), (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
Show notes, about 120 words
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.436A>C is also known as p.Met146Leu or M146L; the c.436A>G mutation is also known as p.Met146Val or M146V; and the c.436A>T mutation is also known as p.Met146Leu or M146L. All three mutations are considered dominantly inherited pathogenic mutations leading to early-onset Alzheimer's disease and are listed in either ClinVar, OMIM and/or AlzForum. 23andMe calls the A>T variant: i5047522 The A>C variant is reported in to be a "definitely" pathogenic mutation.
A;C
see discussion at rs63750306
A;G
see discussion at rs63750306
A;T
see discussion at rs63750306
Source and license
Adapted from rs63750306 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.