Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750871
rs63750871
PMS2
A 0.700 CausalMutation CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986

2016
dbSNP: rs63750871
rs63750871
PMS2
A 0.700 CausalMutation CLINVAR Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 15077197

2004
dbSNP: rs63750871
rs63750871
PMS2
A 0.700 CausalMutation CLINVAR A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. 9488480

1998