MUTYH, mutY DNA glycosylase, 4595

N. diseases: 156; N. variants: 174
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. 18515411 2008
dbSNP: rs34126013
rs34126013
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C1837991
Disease:
Colorectal Adenomatous Polyposis, Autosomal Recessive 		A 0.800 GeneticVariation CLINVAR Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. 27194394 2016