rs367855127
A SNP in the PSEN2 gene on chromosome 1. Its most notable genotype is C;T: Possible early-onset Alzheimer's disease mutation; see discussion
- Gene
- PSEN2
- Location
- Chr 1226,888,974 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon/normal
- C;TMost notableBadPossible early-onset Alzheimer's disease mutation; see discussion
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
Notes
rs367855127, also known as c.712C>T, p.Leu238Phe and L238F, is a variant in the PSEN2 gene on chromosome 10. The rs367855127(T) variant was found in a single individual diagnosed with early-onset Alzheimer's disease and with no family history of the disorder. As cited in the AlzForum mutation database, this is reported to be an early-onset mutation, although confirmatory evidence does not appear to be available as of yet.
C;T
See discussion at rs367855127; this mutation should probably be considered only tentatively pathogenic until it's independently confirmed.
Source and license
Adapted from rs367855127 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.