Gene: CHST6 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72547544
rs72547544
CHST6
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
dbSNP: rs763075517
rs763075517
CHST6
0.010 GeneticVariation BEFREE A phenotypically unusual variant of MCDC1 was found to be associated with the novel Leu173Pro mutation in CHST6, transmitted via uniparental isodisomy, a previously unreported pattern of inheritance in the corneal dystrophies. 17896316

2007