rs63750597
A SNP in the MSH2 gene on chromosome 2. Its most notable genotype is C;G: Likely miscall in 23andMe v4 or older data; otherwise, Lynch syndrome, pathogenic mutation
- Gene
- MSH2
- Location
- Chr 247,466,808 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;GMost notableBadLikely miscall in 23andMe v4 or older data; otherwise, Lynch syndrome, pathogenic mutation
- G;GGoodcommon in clinvar
On SNPedia: (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
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
aka c.1661G>C (p.Ser554Thr) more commonly as tested on DNA chips; but note that c.1661G>A (p.Ser554Asn) is also a known pathogenic mutation
C;G
Likely miscall in older (v1-v4) 23andMe data. Otherwise:
Source and license
Adapted from rs63750597 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.