Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747993448
rs747993448
A 0.800 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015

dbSNP: rs747993448
rs747993448
A 0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015

dbSNP: rs747993448
rs747993448
A 0.800 GeneticVariation CLINVAR First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes. 21195604

2011

dbSNP: rs747993448
rs747993448
A 0.800 CausalMutation CLINVAR First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes. 21195604

2011

dbSNP: rs747993448
rs747993448
A 0.800 CausalMutation CLINVAR Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659

2010

dbSNP: rs747993448
rs747993448
A 0.800 GeneticVariation CLINVAR Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. 19279422

2009

dbSNP: rs747993448
rs747993448
A 0.800 CausalMutation CLINVAR Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. 19279422

2009

dbSNP: rs747993448
rs747993448
A 0.800 GeneticVariation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008

dbSNP: rs747993448
rs747993448
A 0.800 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448

2008

dbSNP: rs747993448
rs747993448
A 0.800 CausalMutation CLINVAR Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. 18091433

2007

dbSNP: rs747993448
rs747993448
A 0.800 GeneticVariation CLINVAR Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. 16890597

2006

dbSNP: rs747993448
rs747993448
A 0.800 CausalMutation CLINVAR Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. 16890597

2006

dbSNP: rs747993448
rs747993448
A 0.800 GeneticVariation CLINVAR MutYH (MYH) and colorectal cancer. 16042573

2005

dbSNP: rs747993448
rs747993448
A 0.800 GeneticVariation CLINVAR MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. 15236166

2004

dbSNP: rs747993448
rs747993448
A 0.800 CausalMutation CLINVAR MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. 15236166

2004