rs121908620, CHST3

N. diseases: 2
Disease: Congenital clubfoot ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
0.010 GeneticVariation BEFREE Here we describe the identification of a mutation (857T > C predicting the substitution L286P) in CHST3 in a Turkish family and extend the clinical phenotype of SED-Omani type to include congenital joint dislocation, club feet, ventricular septal defect, deafness, metacarpal shortening and accessory carpal ossification centers. 18698629 2008