Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937879
rs28937879
CHST6
C 0.820 CausalMutation CLINVAR Novel mutations in the CHST6 gene causing macular corneal dystrophy. 14984470

2004
dbSNP: rs28937879
rs28937879
CHST6
C 0.820 CausalMutation CLINVAR Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. 11818380

2002
dbSNP: rs28937879
rs28937879
CHST6
C 0.820 CausalMutation CLINVAR Phenotype and genotype analysis in patients with macular corneal dystrophy. 24926691

2014
dbSNP: rs28937879
rs28937879
CHST6
C 0.820 CausalMutation CLINVAR CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. 16568029

2006
dbSNP: rs28937879
rs28937879
CHST6
C 0.820 CausalMutation CLINVAR Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. 15013869

2004
dbSNP: rs28937879
rs28937879
CHST6
C 0.820 CausalMutation CLINVAR Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. 15652851

2005
dbSNP: rs28937879
rs28937879
CHST6
C 0.820 CausalMutation CLINVAR Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. 18500531

2008
dbSNP: rs28937879
rs28937879
CHST6
C 0.820 CausalMutation CLINVAR Allelic association of the c.[484C>G; 599T>G] in six probands out of eight, as well as occurrence of this particular allele in a heterozygous state in one healthy control individual, supports a common founder effect for MCD in the Czech Republic. 17962390

2008
dbSNP: rs28937879
rs28937879
CHST6
0.820 GeneticVariation UNIPROT

dbSNP: rs28937879
rs28937879
CHST6
0.820 GeneticVariation BEFREE Allelic association of the c.[484C>G; 599T>G] in six probands out of eight, as well as occurrence of this particular allele in a heterozygous state in one healthy control individual, supports a common founder effect for MCD in the Czech Republic. 17962390

2008
dbSNP: rs28937879
rs28937879
CHST6
C 0.820 CausalMutation CLINVAR Macular corneal dystrophy and associated corneal thinning. 25081284

2014
dbSNP: rs28937879
rs28937879
CHST6
0.820 GeneticVariation BEFREE CHST6 coding region analysis in 10 patients identified as having type I macular corneal dystrophy revealed 10 sequence changes: eight missense mutations, four of which are novel (Met104Val, Tyr110Cys, Gln122Pro, and Leu276Pro) and four of which have been reported previously (Ser51Leu, Pro72Ser, Cys102Gly, and Leu200Arg); one novel homozygous nonsense mutation in two patients from a single family (c. 1683C>T, Gln331X); and one frameshift mutation in a heterozygous state in a single patient (c.1744_1751dupGTGCGCTG). 15013869

2004
dbSNP: rs28937879
rs28937879
CHST6
C 0.820 CausalMutation CLINVAR Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. 12824236

2003
dbSNP: rs121917824
rs121917824
CHST6
0.810 GeneticVariation UNIPROT Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. 12882769

2003
dbSNP: rs121917824
rs121917824
CHST6
0.810 GeneticVariation UNIPROT Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. 14609920

2003
dbSNP: rs121917824
rs121917824
CHST6
0.810 GeneticVariation UNIPROT Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. 11818380

2002
dbSNP: rs121917824
rs121917824
CHST6
0.810 GeneticVariation UNIPROT Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. 12883341

2003
dbSNP: rs121917824
rs121917824
CHST6
0.810 GeneticVariation UNIPROT Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. 12824236

2003
dbSNP: rs121917824
rs121917824
CHST6
0.810 GeneticVariation UNIPROT Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. 15652851

2005
dbSNP: rs121917824
rs121917824
CHST6
0.810 GeneticVariation UNIPROT Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. 19365571

2009
dbSNP: rs121917824
rs121917824
CHST6
0.810 GeneticVariation UNIPROT Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. 15013869

2004
dbSNP: rs121917824
rs121917824
CHST6
0.810 GeneticVariation BEFREE CHST6 coding region analysis in 10 patients identified as having type I macular corneal dystrophy revealed 10 sequence changes: eight missense mutations, four of which are novel (Met104Val, Tyr110Cys, Gln122Pro, and Leu276Pro) and four of which have been reported previously (Ser51Leu, Pro72Ser, Cys102Gly, and Leu200Arg); one novel homozygous nonsense mutation in two patients from a single family (c. 1683C>T, Gln331X); and one frameshift mutation in a heterozygous state in a single patient (c.1744_1751dupGTGCGCTG). 15013869

2004
dbSNP: rs121917824
rs121917824
CHST6
0.810 GeneticVariation UNIPROT Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. 11139648

2000
dbSNP: rs121917824
rs121917824
CHST6
G 0.810 CausalMutation CLINVAR

dbSNP: rs121917824
rs121917824
CHST6
0.810 GeneticVariation UNIPROT Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophy. 21242781

2011