rs34612342, MUTYH

N. diseases: 32
Disease: Adenoma of large intestine ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.020 GeneticVariation BEFREE The 2 main missense mutations c.1145G>A, p.Gly382Asp and c.494A>G, p.Tyr165Cys were associated with the development of colorectal adenomas/serrated polyps in these monoallelic carriers. 30640315 2019
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
0.020 GeneticVariation BEFREE Here, we report the identification of seven further unrelated patients with >100 colorectal adenomas (six with colorectal cancer) and biallelic germline mutations in MYH: four were homozygous for truncating mutations, two were homozygous for Y165C and one was a Y165C/G382D compound heterozygote. 12393807 2002