Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607789
rs267607789
MLH1
A 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: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668

2006
dbSNP: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer. 17054581

2006
dbSNP: rs267607789
rs267607789
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: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 11781295

2002
dbSNP: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 11524701

2001
dbSNP: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility. 9490293

1998
dbSNP: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR Alternative splicing of MLH1 messenger RNA in human normal cells. 7728749

1995