rs34612342, MUTYH

N. diseases: 11
Disease: MUTYH-Associate Polyposis ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 CausalMutation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570 2015
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 CausalMutation CLINVAR In MAP patients of European origin, the combined allele frequency of the mutations p.Tyr179Cys and p.Gly396Asp ranges between 50 and 82%, while these mutations have not been identified in Far Eastern Asian populations, supporting the hypothesis that a founder effect has occurred at some point in European history. 23361220 2014
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 CausalMutation CLINVAR Characterization of mutant MUTYH proteins associated with familial colorectal cancer. 18534194 2008
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 CausalMutation CLINVAR Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization. 16616356 2006
MUTYH-Associate Polyposis
CUI: C3272841
Disease: MUTYH-Associate Polyposis
0.800 CausalMutation CLINVAR Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). 16140997 2005