rs63749932
A SNP in the MSH2 gene on chromosome 2. Its most notable genotype is C;T: Lynch syndrome; pathogenic mutation
- Gene
- MSH2
- Location
- Chr 247,476,399 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadLynch syndrome; pathogenic mutation
- T;TBadLynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
On SNPedia: (C;C), (C;T), (T;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
Show notes, about 140 words
rs63749932 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC). This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about. Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer. Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. Switching from tacrolimus to sirolimus halts the appearance of new sebaceous neoplasms in Muir-Torre syndrome.
T;T
Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
Source and license
Adapted from rs63749932 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.