rs63750083
A SNP in the PSEN1 gene on chromosome 14. Its most notable genotype is A;C: Early-onset Alzheimer's; see discussion
- Gene
- PSEN1
- Location
- Chr 1473,219,177 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
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
Show notes, about 140 words
rs63750083, also known as c.1292C>A, p.Ala431Glu and A431E, represents a rare mutation in the PSEN1 gene on chromosome 14. [There is an alternate allele, c.1292C>T, however the medical consequence if any is not currently reported.] As described initially in 2006 in families from the Jalisco region of Mexiso, the rs63750083(A) variant is considered a founder mutation for early-onset Alzheimer's disease. It is not clear if it is fully penetrant. A 2016 NPR article about families with the Jalisco mutation can be found here, and a 2017 USC News article can be found here. 23andMe calls the c.1292C>A SNP by the name i5047580; as far as is known, though, they do not test the C>T allele pair, which is the one for the Jalisco mutation.
A;C
see discussion at rs63750083; note penetrance of this mutation may not be 100%
Source and license
Adapted from rs63750083 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.