rs2303428
A SNP in the MSH2 gene on chromosome 2. Its most notable genotype is T;T: common in clinvar
- Gene
- MSH2
- Location
- Chr 247,476,361 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe
- Minor allele frequency
- 13%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageT;T 77%
- European ancestry (Utah)T;T 81%
- Han Chinese (Beijing)T;T 50%
- Japanese (Tokyo)T;T 42%
- Yoruba (Nigeria)T;T 100%
- African ancestry (Southwest US)T;T 93%
- Chinese (Denver)T;T 40%
- Gujarati IndianT;T 82%
- Luhya (Kenya)T;T 97%
- Mexican ancestry (Los Angeles)T;T 88%
- Maasai (Kenya)T;T 93%
- TuscanT;T 85%
Related
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
Endometrial cancer risk is associated with variants of the mismatch repair genes MLH1 and MSH2. Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers. Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer. Recurrent germline mutation in MSH2 arises frequently de novo. MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer. Implications of mismatch repair genes hMLH1 and hMSH2 in patients with sporadic renal cell carcinoma.
Source and license
Adapted from rs2303428 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.