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
0.010 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