Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36053993
rs36053993
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.800 CausalMutation CLINVAR Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. 19836313

2009
dbSNP: rs36053993
rs36053993
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.800 CausalMutation CLINVAR The mean ages of CRC diagnosis in patients were 58 years (homozygous G396D) and 52 years (compound heterozygous G396D/Y179C) versus 46 years (homozygous Y179C; P = .001, linear regression). 19032956

2009
dbSNP: rs36053993
rs36053993
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.800 CausalMutation CLINVAR Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. 19394335

2009
dbSNP: rs36053993
rs36053993
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.800 CausalMutation CLINVAR Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. 19732775

2009
dbSNP: rs36053993
rs36053993
MUTYH
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.800 CausalMutation CLINVAR Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 11818965

2002