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 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

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 The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer. 25307252

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 The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer. 22219001

2012

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 MSH6 germline mutations are rare in colorectal cancer families. 14520694

2003