Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917822
rs121917822
CHST6
0.800 GeneticVariation UNIPROT Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. 11139648

2000
dbSNP: rs28937877
rs28937877
CHST6
C 0.800 CausalMutation CLINVAR Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. 11017086

2000
dbSNP: rs121917822
rs121917822
CHST6
C 0.800 CausalMutation CLINVAR

dbSNP: rs28937877
rs28937877
CHST6
0.800 GeneticVariation UNIPROT

dbSNP: rs28937878
rs28937878
CHST6
T 0.800 CausalMutation CLINVAR

dbSNP: rs28937878
rs28937878
CHST6
0.800 GeneticVariation UNIPROT

dbSNP: rs72547544
rs72547544
CHST6
C 0.800 CausalMutation CLINVAR

dbSNP: rs72547544
rs72547544
CHST6
0.800 GeneticVariation UNIPROT

dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation UNIPROT Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations. 26604660

2015
dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation UNIPROT A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene. 24311932

2013
dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation UNIPROT Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy. 21242781

2011
dbSNP: rs376162109
rs376162109
CHST6
0.710 GeneticVariation BEFREE A novel p.Pro186Arg mutation in CHST6 is associated with MCD type II in an African American. 21242781

2011
dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation UNIPROT Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. 19365571

2009
dbSNP: rs72547543
rs72547543
CHST6
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
dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation UNIPROT Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. 15652851

2005
dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation UNIPROT Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. 15013869

2004
dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation UNIPROT Novel mutations in the CHST6 gene causing macular corneal dystrophy. 14984470

2004
dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation UNIPROT Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. 12824236

2003
dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation BEFREE Two mutations (homozygoous R211W and compound heterozygous R211W/A217T) should be subclassified immunohistochemically into new phenotypes of MCD. 12882769

2003
dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation UNIPROT Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. 14609920

2003
dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation UNIPROT Two mutations (homozygoous R211W and compound heterozygous R211W/A217T) should be subclassified immunohistochemically into new phenotypes of MCD. 12882769

2003
dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation UNIPROT Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. 12882775

2003
dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation UNIPROT Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. 14735064

2003
dbSNP: rs202175444
rs202175444
CHST6
0.710 GeneticVariation UNIPROT Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. 12883341

2003
dbSNP: rs752785520
rs752785520
CHST6
0.710 GeneticVariation BEFREE Two mutations (homozygoous R211W and compound heterozygous R211W/A217T) should be subclassified immunohistochemically into new phenotypes of MCD. 12882769

2003