rs63750347
A SNP in the MSH2 gene on chromosome 2. Its most notable genotype is C;T: Lynch syndrome, pathogenic mutation
- Gene
- MSH2
- Location
- Chr 247,412,522 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
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 MSH2 SNPs
- rs63750245T;TLynch syndrome; hereditary nonpolyposis colorectal cancer-1Very important
- rs63750875C;CLynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)Very important
- rs63751449-;-Lynch syndrome; hereditary nonpolyposis colorectal cancer-1Very important
- rs12476364A;GLynch syndrome, pathogenic mutationVery important
- rs28929483C;TLynch syndrome, pathogenic mutationVery important
- rs28929484C;TLynch syndrome, pathogenic mutationVery important
- rs34986638G;TLynch syndrome, pathogenic mutationVery important
- rs63749802G;TLynch syndrome, pathogenic mutationVery important
Notes
From SNPedia
Notes
rs63750347, also known as c.754C>T, p.Gln252Ter and Q252X, is a very rare mutation in the MSH2 gene on chromosome 2. Acting in an autosomal dominant manner, the rs63750347(T) allele is considered pathogenic by multiple sources in ClinVar for Lynch syndrome, a disorder characterized by increased risk for colon cancer and other cancers. Although on their v3 chip under it's real (public) name, on their v4 chip, rs63750347 has been renamed by 23andMe to a private name, i5900960.
C;T
see discussion at rs63750347
Source and license
Adapted from rs63750347 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.