Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36053993
rs36053993
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE Two rare variants (OGG1 c.137G>A; MUTYH c.1187G>A) and one common polymorphism (NUDT1 c.426C>T) were associated with CRC risk. 21355073

2011

dbSNP: rs36053993
rs36053993
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 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

dbSNP: rs36053993
rs36053993
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE 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
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE The two most common hMYH variants found in patients with colorectal cancer are Y165C and G382D. 15661655

2005

dbSNP: rs36053993
rs36053993
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE The Y165C and 1103delC mutations significantly reduce MUTYH protein stability and thus repair activity, whereas the G382D mutation produces dysfunctional protein only suggesting different functional molecular mechanisms by which the MAP phenotype may contribute to the development of CRC. 15987719

2005

dbSNP: rs36053993
rs36053993
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE We used a population-based series of 1238 colorectal cancer patients and 1255 healthy control subjects from Ontario, Canada, to examine the risk of colorectal cancer among biallelic and monoallelic germline MYH Y165C and G382D mutation carriers. 15523092

2004

dbSNP: rs36053993
rs36053993
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE Biallelic mutations for Y165C and/or G382D were not found in any of those undergoing screening colonoscopy with 0-3 polyps (n = 400), in those APC-negative patients with <20 adenomatous polyps (n = 26), or in those with CRC who were older than 50 years (n = 328). 15236166

2004