rs72547544, CHST6

N. diseases: 2
Disease: Corneal dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
0.010 GeneticVariation BEFREE Finally, molecular analysis of CHST6 in a patient with macular CD disclosed the presence of a homozygous p.Y110C change. 24801599 2014