Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751662
rs63751662
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 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
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 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
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 GeneticVariation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63751662
rs63751662
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 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
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR