Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749843
rs63749843
T 0.700 CausalMutation CLINVAR Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy. 29360161

2018

dbSNP: rs63749843
rs63749843
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs63749843
rs63749843
T 0.700 CausalMutation CLINVAR Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. 24323032

2014

dbSNP: rs63749843
rs63749843
T 0.700 CausalMutation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014

dbSNP: rs63749843
rs63749843
T 0.700 CausalMutation CLINVAR Population-based molecular screening for Lynch syndrome: implications for personalized medicine. 23733757

2013

dbSNP: rs63749843
rs63749843
T 0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993

2010

dbSNP: rs63749843
rs63749843
T 0.700 CausalMutation CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569

2010

dbSNP: rs63749843
rs63749843
T 0.700 CausalMutation CLINVAR Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families. 20937110

2010

dbSNP: rs63749843
rs63749843
T 0.700 CausalMutation CLINVAR Atypical identification of Lynch syndrome by immunohistochemistry and microsatellite instability analysis on jejunal adenocarcinoma. 20379851

2010

dbSNP: rs63749843
rs63749843
T 0.700 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008

dbSNP: rs63749843
rs63749843
T 0.700 CausalMutation CLINVAR Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. 15483016

2004

dbSNP: rs63749843
rs63749843
T 0.700 CausalMutation CLINVAR Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation. 11807791

2002