rs63750451
A SNP in the PMS2 gene on chromosome 7. Its most notable genotype is C;T: Lynch syndrome
- Gene
- PMS2
- Location
- Chr 75,986,883 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadLynch syndrome
- G;GGoodcommon in clinvar
- A;GBadhereditary nonpolyposis colorectal cancer (HNPCC4)
- A;ABadhereditary nonpolyposis colorectal cancer (HNPCC4)
SNPedia records rs63750451 on the minus strand: (A;G), (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other PMS2 SNPs
- rs3209663G;TLynch syndromeVery important
- rs63750049-;TLynch syndrome, pathogenic mutationVery important
- rs63750106-;TLynch syndrome, pathogenic mutationVery important
- rs63750246-;CALynch syndrome, pathogenic mutationVery important
- rs63750250-;TLynch syndrome, pathogenic mutationVery important
- rs63750261C;TLynch syndromeVery important
- rs63750477-;TLynch syndrome, pathogenic mutationVery important
- rs63750490A;TLynch syndrome, pathogenic mutationVery important
Notes
From SNPedia
Notes
rs63750451 is a SNP in the PMS2 gene on chromosome 7, associated with hereditary nonpolyposis colorectal cancer (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. See also OMIM 600259.0009
A;A
hereditary nonpolyposis colorectal cancer (HNPCC4)
Source and license
Adapted from rs63750451 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.