rs63750307
A SNP in the PSEN1 gene on chromosome 14. Its most notable genotype is -;ATCATG: Early-onset Alzheimer's disease (predicted)
- Gene
- PSEN1
- Location
- Chr 1473,170,956 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;ATCATGMost notableBadEarly-onset Alzheimer's disease (predicted)
- ATCATGGoodDoes not lead to Early onset Alzheimer's
- ATCATG;ATCATGGoodcommon/normal
On SNPedia: (-;ATCATG), (ATCATG), (ATCATG;ATCATG). 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
rs63750307, also known as DellM, I83_M84del, and c.247_252delATCATG, represents a mutation in the PSEN1 gene on chromosome 14. This deletion, located in exon 4 of the PSEN1 gene, is considered to be a dominant mutation pathogenic for early-onset Alzheimer's disease., See also: AlzForum
-;ATCATG
see discussion and references at rs63750307
Source and license
Adapted from rs63750307 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.