Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations. 26604660

2015

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene. 24311932

2013

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy. 21242781

2011

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. 19365571

2009

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. 15652851

2005

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Novel mutations in the CHST6 gene causing macular corneal dystrophy. 14984470

2004

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. 15013869

2004

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. 12882775

2003

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. 12883341

2003

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. 12824236

2003

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. 14735064

2003

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. 14609920

2003

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. 12882769

2003

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. 11818380

2002

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate. 12218059

2002

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. 11139648

2000

dbSNP: rs370335460
rs370335460
0.700 GeneticVariation UNIPROT Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. 11017086

2000