rs72547543, CHST6

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Macular dystrophy, corneal type 1
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
0.710 GeneticVariation BEFREE Four of five individuals with MCD type II were compound heterozygotes for p.A128V and p.V329L, thus sharing the same p.A128V mutation as MCD type I. 17093400 2006
Macular dystrophy, corneal type 1
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
0.710 GeneticVariation UNIPROT