Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1558521605
rs1558521605
CGTAG 0.700 CausalMutation CLINVAR

dbSNP: rs63750843
rs63750843
T 0.700 CausalMutation CLINVAR

dbSNP: rs63751411
rs63751411
T 0.700 CausalMutation CLINVAR

dbSNP: rs267607911
rs267607911
0.010 GeneticVariation BEFREE We report on an ovarian cancer patient who carries a germline MSH2 c.1A>C variant which alters the translation initiation codon. 21837758

2012

dbSNP: rs63751207
rs63751207
0.010 GeneticVariation BEFREE We have identified the source of the genetic instability in one ovarian tumor as a point mutation (R524P) in the human mismatch-repair gene MSH2 (Salmonella MutS homologue), which has recently been shown to be involved in hereditary nonpolyposis colorectal cancer. 7937795

1994