Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607760
rs267607760
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 CausalMutation CLINVAR Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. 21681552

2011
dbSNP: rs267607760
rs267607760
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 CausalMutation CLINVAR Clinical features and hMSH2/hMLH1 germ-line mutations in Chinese patients with hereditary nonpolyposis colorectal cancer. 18713544

2008
dbSNP: rs267607760
rs267607760
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		G 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: rs267607760
rs267607760
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 CausalMutation CLINVAR Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families. 15253764

2004
dbSNP: rs267607760
rs267607760
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 CausalMutation CLINVAR Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. 12547705

2003
dbSNP: rs267607760
rs267607760
MLH1
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 CausalMutation CLINVAR Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes. 9218993

1997