rs63750231
A SNP in the PSEN1 gene on chromosome 14. Its most notable genotype is A;C: Early-onset Alzheimer's disease (in some cases)
- Gene
- PSEN1
- Location
- Chr 1473,198,100 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;CMost notableBadEarly-onset Alzheimer's disease (in some cases)
- A;GBadEarly-onset Alzheimer's disease
On SNPedia: (A;A), (A;C), (A;G). 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 180 words
rs63750231 consists of at least two known mutations, and so this SNP is also known as both c.839A>C, p.Glu280Ala and E280A, as well as c.839A>G, p.Glu280Gly and E280G. Both are very rare mutations in the PSEN1 gene on chromosome 14. The rs63750231(C) allele is reported to be a dominant mutation leading to early-onset Alzheimer's disease. This was originally reported in 1995 (), with subsequent reports based on Colombian populations, where the mutation is known as the "Paisa mutation" and is somewhat more frequent than in other populations. Additional information can be found in OMIM 104311.0009. The rs63750231(G) allele is also reported to a dominant mutation leading to early-onset Alzheimer's disease. More information about this mutation can be found in OMIM 104311.0010. This SNP is referred to as i5047571 by 23andMe, and it is reported to assay the A/G form of this SNP (and not the A/C). Washington Post article on the history, traces the presence of this to a 17th century conquistador.
A;C
See discussion at rs63750231
A;G
See discuss at rs63750231
Source and license
Adapted from rs63750231 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.