rs36053993, MUTYH

N. diseases: 31
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenoma
CUI: C0001430
Disease: Adenoma
0.020 GeneticVariation BEFREE One patient with 25 adenomas without colorectal cancer carried the c.1145G>A mutation at a homozygote state and one patient with 3 polyps was heterozygote for the mutation c.1145G>A. 22266422 2012
Adenoma
CUI: C0001430
Disease: Adenoma
0.020 GeneticVariation BEFREE Fourteen years of colonoscopic surveillance of an MAP patient (compound heterozygous p.Y165C/p.G382D) showed that adenoma development was slow after initial diagnosis of a single colorectal carcinoma at the age of 44, but then the annual number of new adenomas increased substantially in the patient's early fifties. 19672709 2010