Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital contractural arachnodactyly
0.010 GeneticVariation BEFREE The aim of this study was to re-evaluate the MUTYH hotspot mutations p.Y179C (rs34612342) and p.G396D (rs36053993) as genetic susceptibility factors in a large CCA cohort. 24420788 2014