rs150400387
A SNP in the PSEN2 gene on chromosome 1. Its most notable genotype is C;T: Possible Alzheimer's disease mutation - see discussion
- Gene
- PSEN2
- Location
- Chr 1226,883,747 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PSEN2 SNPs
- rs28936379A;Gearly-onset Alzheimers diseaseVery important
- rs28936380C;Gearly-onset Alzheimer's diseaseVery important
- rs63749851A;CEarly-onset Alzheimer's diseaseVery important
- rs63750215A;Tearly-onset Alzheimer's diseaseVery important
- rs61761208A;TEarly-onset Alzheimer's mutation (reported)Very important
- rs63749884A;Gearly-onset Alzheimer's disease; penetrance not 100%Very important
- rs63750666C;Tearly-onset Alzheimer's disease; penetrance unclearVery important
- rs200754713A;GFrontotemporal dementia (reported)Very important
Notes
From SNPedia
Show notes, about 120 words
rs150400387, also known as c.184C>T, p.Arg62Cys and R62C, represents a rare mutation in the PSEN2 gene on chromosome 1. Certain mutations in the PSEN2 gene lead to early-onset Alzheimer's disease, usually inherited in an autosomal dominant manner. The rs150400387(T) allele is reported in a 49 year old Korean patient as being pathogenic, as also predicted by structural calculations. However, the AlzForum database, which does tabulate at least 4 individuals with Alzheimer's carrying this mutation, concludes that the pathogenicity remains unclear.alzforum.org
C;T
See discussion at rs150400387; this may be a mutation leading to early-onset Alzheimer's disease, however, questions about it remain.
Source and license
Adapted from rs150400387 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.