Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749906
rs63749906
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63749906
rs63749906
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 17440981

2007
dbSNP: rs63749906
rs63749906
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 17312306

2007
dbSNP: rs63749906
rs63749906
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. 16995940

2006
dbSNP: rs63749906
rs63749906
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer. 15731775

2005
dbSNP: rs63749906
rs63749906
MLH1 ; EPM2AIP1
G 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: rs63749906
rs63749906
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations. 10082584

1999
dbSNP: rs63749906
rs63749906
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. 8521398

1995