Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750439
rs63750439
C 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs63750439
rs63750439
C 0.700 CausalMutation CLINVAR Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats. 21081928

2010

dbSNP: rs63750439
rs63750439
C 0.700 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008

dbSNP: rs63750439
rs63750439
C 0.700 CausalMutation CLINVAR Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue. 14974087

2004