rs63749831
A SNP in the MSH2 gene on chromosome 2. Its most notable genotype is -;AAT: Lynch syndrome, pathogenic mutation
- Gene
- MSH2
- Location
- Chr 247,475,051 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (-;AAT), (AAT;AAT). 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
rs63749831, also known as c.1786_1788delAAT, p.Asn596del and N596del, is a very rare mutation in the MSH2 gene on chromosome 2. Acting in an autosomal dominant manner, the rs63749831(-) allele is considered pathogenic by multiple sources in ClinVar for Lynch syndrome, a disorder characterized by increased risk for colon cancer and other cancers. See also OMIM 609309.0005 Although present on the v3 chip under it's real (public) name, it appears that this mutation has been renamed by 23andMe to a private name, i5900861, on their v4 chip.
-;AAT
see discussion at rs63749831
Source and license
Adapted from rs63749831 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.