Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751662
rs63751662
MLH1
A 0.700 GeneticVariation CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186

2016
dbSNP: rs63751662
rs63751662
MLH1
A 0.700 GeneticVariation CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394

2013
dbSNP: rs63751662
rs63751662
MLH1
T 0.700 CausalMutation CLINVAR Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 24278394

2013
dbSNP: rs63751662
rs63751662
MLH1
A 0.700 GeneticVariation CLINVAR Distinct mutations in MLH1 and MSH2 genes in hereditary non-polyposis colorectal cancer (HNPCC) families from China. 21615986

2011
dbSNP: rs63751662
rs63751662
MLH1
A 0.700 GeneticVariation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117

2011
dbSNP: rs63751662
rs63751662
MLH1
A 0.700 GeneticVariation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011
dbSNP: rs63751662
rs63751662
MLH1
T 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011
dbSNP: rs63751662
rs63751662
MLH1
A 0.700 GeneticVariation CLINVAR Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. 19419416

2009
dbSNP: rs63751662
rs63751662
MLH1
A 0.700 GeneticVariation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008
dbSNP: rs63751662
rs63751662
MLH1
T 0.700 CausalMutation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008
dbSNP: rs63751662
rs63751662
MLH1
T 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63751662
rs63751662
MLH1
A 0.700 GeneticVariation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668

2006
dbSNP: rs63751662
rs63751662
MLH1
T 0.700 CausalMutation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668

2006
dbSNP: rs63751662
rs63751662
MLH1
A 0.700 GeneticVariation CLINVAR Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing. 11208710

2001
dbSNP: rs63751662
rs63751662
MLH1
A 0.700 GeneticVariation CLINVAR Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. 10480359

1999
dbSNP: rs63751662
rs63751662
MLH1
T 0.700 CausalMutation CLINVAR Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. 10480359

1999