rs747993448, MUTYH

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation UNIPROT ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 24310308 2014
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation CLINVAR First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes. 21195604 2011
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes. 21195604 2011
Colorectal Adenomatous Polyposis, Autosomal Recessive
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
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. 19279422 2009
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation CLINVAR Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. 19279422 2009
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448 2008
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 18301448 2008
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis. 18091433 2007
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. 16890597 2006
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation CLINVAR Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. 16890597 2006
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation CLINVAR MutYH (MYH) and colorectal cancer. 16042573 2005
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 CausalMutation CLINVAR MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. 15236166 2004
Colorectal Adenomatous Polyposis, Autosomal Recessive
0.800 GeneticVariation CLINVAR MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. 15236166 2004
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study. 27829682 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes. 21195604 2011