Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553125766
rs1553125766
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		G 0.700 GeneticVariation CLINVAR MUTYH mediates the toxicity of combined DNA 6-thioguanine and UVA radiation. 25638157

2015
dbSNP: rs1553125766
rs1553125766
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		G 0.700 GeneticVariation CLINVAR Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain. 25820570

2015
dbSNP: rs1553125766
rs1553125766
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		G 0.700 GeneticVariation CLINVAR Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability. 23108399

2013
dbSNP: rs1553125766
rs1553125766
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		G 0.700 GeneticVariation CLINVAR MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. 19953527

2010
dbSNP: rs1553125766
rs1553125766
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		G 0.700 GeneticVariation CLINVAR Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. 20848659

2010
dbSNP: rs1553125766
rs1553125766
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		G 0.700 GeneticVariation CLINVAR Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis. 20418187

2010
dbSNP: rs1553125766
rs1553125766
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		G 0.700 GeneticVariation CLINVAR Mutator phenotype of MUTYH-null mouse embryonic stem cells. 12917422

2003
dbSNP: rs1553125766
rs1553125766
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		G 0.700 GeneticVariation CLINVAR Replication-associated repair of adenine:8-oxoguanine mispairs by MYH. 11864576

2002
dbSNP: rs1553125766
rs1553125766
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		G 0.700 GeneticVariation CLINVAR Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair. 11092888

2001
dbSNP: rs1553125766
rs1553125766
MUTYH
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		G 0.700 GeneticVariation CLINVAR Mitochondrial targeting of human DNA glycosylases for repair of oxidative DNA damage. 9611236

1998