Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886044911
rs886044911
GA 0.700 CausalMutation CLINVAR Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. 24440087

2014

dbSNP: rs886044911
rs886044911
GA 0.700 CausalMutation CLINVAR An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. 19851887

2010

dbSNP: rs886044911
rs886044911
GA 0.700 CausalMutation CLINVAR MSH6 germline mutations are rare in colorectal cancer families. 14520694

2003