Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608121
rs267608121
ATCAG 0.700 CausalMutation CLINVAR Identification of germline genetic mutations in patients with pancreatic cancer. 26440929

2015

dbSNP: rs267608121
rs267608121
ATCAG 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: rs267608121
rs267608121
ATCAG 0.700 CausalMutation CLINVAR Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. 21155762

2011

dbSNP: rs267608121
rs267608121
ATCAG 0.700 CausalMutation CLINVAR An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. 19851887

2010

dbSNP: rs267608121
rs267608121
ATCAG 0.700 CausalMutation CLINVAR Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6. 16237223

2005

dbSNP: rs267608121
rs267608121
ATCAG 0.700 CausalMutation CLINVAR Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. 15236168

2004

dbSNP: rs267608121
rs267608121
ATCAG 0.700 CausalMutation CLINVAR MSH6 germline mutations are rare in colorectal cancer families. 14520694

2003