rs17125721
A SNP in the PSEN1 gene on chromosome 14. Its most notable genotype is A;A: common in clinvar
- Gene
- PSEN1
- Location
- Chr 1473,206,470 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (A;A). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageA;A 99%
- European ancestry (Utah)A;A 97%
- Han Chinese (Beijing)A;A 100%
- Japanese (Tokyo)A;A 100%
- Yoruba (Nigeria)A;A 100%
Related
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 130 words
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750021/ This is research done at Washington University in St Louis Missouri. They have discovered a presenilin1 gene variation that appears to increase the Alzheimer's risk of an APO E3/E4 individual to that of an APO E4/E4 individual. They are trying to discover why at least a third of people with Alzheimer's disease do not have the an APO E4 allele, and why some people who are homozygotes for APO E4 do not get the disease. Certain mutations are being discovered (not just this) that may help explain why. Note that these initial studies should be confirmed in other studies. Did not find any statistically significant association between rs17125721 (E318G) and APOE4, however, study may have been "underpowered".
Source and license
Adapted from rs17125721 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.