Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750437
rs63750437
MLH1
A 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: rs63750437
rs63750437
MLH1
A 0.700 CausalMutation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387

2013
dbSNP: rs63750437
rs63750437
MLH1
A 0.700 CausalMutation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117

2011
dbSNP: rs63750437
rs63750437
MLH1
A 0.700 CausalMutation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312

2008
dbSNP: rs63750437
rs63750437
MLH1
A 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63750437
rs63750437
MLH1
A 0.700 CausalMutation CLINVAR The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. 17210669

2007
dbSNP: rs63750437
rs63750437
MLH1
A 0.700 CausalMutation CLINVAR Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair. 17135187

2006
dbSNP: rs63750437
rs63750437
MLH1
A 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: rs63750437
rs63750437
MLH1
A 0.700 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005
dbSNP: rs63750437
rs63750437
MLH1
A 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: rs63750437
rs63750437
MLH1
A 0.700 CausalMutation CLINVAR Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. 11793442

2002
dbSNP: rs63750437
rs63750437
MLH1
A 0.700 CausalMutation CLINVAR Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer. 9032648

1997