Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937879
rs28937879
C 0.820 CausalMutation CLINVAR Phenotype and genotype analysis in patients with macular corneal dystrophy. 24926691

2014

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

2014

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

2008

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

2005

dbSNP: rs28937879
rs28937879
C 0.820 CausalMutation CLINVAR Novel mutations in the CHST6 gene causing macular corneal dystrophy. 14984470

2004

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

2003

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

2002

dbSNP: rs28937879
rs28937879
0.820 GeneticVariation UNIPROT