Rs63750871

rs63750871 is a SNP in the PMS2 gene on chromosome 7, associated with mismatch repair cancer syndrome.

Subsequent findings were consistent with autosomal recessive inheritance for the cancers associated with this SNP, however another study suggested the possibility that a heterozygous genotype for this SNP could act in a dominant-negative manner.{PMID|9488480|OA=1}}

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 600259.0001