Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750855
rs63750855
MLH1
AC 0.700 CausalMutation CLINVAR Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome. 26053027

2015
dbSNP: rs63750855
rs63750855
MLH1
AC 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: rs63750855
rs63750855
MLH1
AC 0.700 CausalMutation CLINVAR Double heterozygosity for BRCA1 and hMLH1 gene mutations in a 46-year-old woman with five primary tumors. 23695190

2014
dbSNP: rs63750855
rs63750855
MLH1
AC 0.700 CausalMutation CLINVAR Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases. 22691310

2012
dbSNP: rs63750855
rs63750855
MLH1
AC 0.700 CausalMutation CLINVAR Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families. 21598002

2011
dbSNP: rs63750855
rs63750855
MLH1
AC 0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915

2009
dbSNP: rs63750855
rs63750855
MLH1
A 0.700 CausalMutation CLINVAR The frequency of Muir-Torre syndrome among Lynch syndrome families. 18270343

2008
dbSNP: rs63750855
rs63750855
MLH1
A 0.700 CausalMutation CLINVAR Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200

2005
dbSNP: rs63750855
rs63750855
MLH1
AC 0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733

2005
dbSNP: rs63750855
rs63750855
MLH1
AC 0.700 CausalMutation CLINVAR Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer. 15926618

2005
dbSNP: rs63750855
rs63750855
MLH1
AC 0.700 CausalMutation CLINVAR A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. 12810663

2003
dbSNP: rs63750855
rs63750855
MLH1
AC 0.700 CausalMutation CLINVAR Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. 8872463

1996
dbSNP: rs63750855
rs63750855
MLH1
AC 0.700 CausalMutation CLINVAR Oxidative metabolism in reperfused myocardium. 1756143

1991