Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751094
rs63751094
MLH1
T 0.700 GeneticVariation CLINVAR Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors. 25060679

2015
dbSNP: rs63751094
rs63751094
MLH1
T 0.700 GeneticVariation CLINVAR Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis. 25477341

2015
dbSNP: rs63751094
rs63751094
MLH1
T 0.700 GeneticVariation CLINVAR Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers. 23760103

2013
dbSNP: rs63751094
rs63751094
MLH1
T 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: rs63751094
rs63751094
MLH1
T 0.700 GeneticVariation CLINVAR Cancer risk in 348 French MSH2 or MLH1 gene carriers. 12624141

2003