Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE In 68 unrelated patients who had been diagnosed with GCD, 62 patients (91%) were found to have the R124H mutation, which has been reported to cause ACD, whereas only six patients (9%) had the R555W mutation. 10832717

2000

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE All 34 patients with the R124L mutation displayed the clinical, histologic, and electron microscopic features of the dystrophy previously described as a superficial variant of corneal granular dystrophy. 10889112

2000

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE A novel R124L mutation of the BIGH3 gene was associated in this family with a superficial variant of granular corneal dystrophy. 9930165

1999

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE These results, together with our previous findings, show that the classic form of granular corneal dystrophy associated with the R555W mutation is rare in Japanese patients, whereas granular corneal dystrophy accompanied by amyloid deposits and associated with the R124H mutation, Avellino corneal dystrophy, is more common. 9744382

1998

dbSNP: rs121909208
rs121909208
0.100 GeneticVariation BEFREE The three severely affected family members exhibited homozygous mutations at codon 555 (arginine to tryptophan) in the keratoepithelin gene, whereas those with typical granular corneal dystrophy had the heterozygous mutation at the same codon. 9727509

1998

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE The homozygous R124H keratoepithelin mutations are the cause of the severe variant of GCD characterized by juvenile-onset and confluent superficial opacity. 9727418

1998

dbSNP: rs121909210
rs121909210
0.020 GeneticVariation BEFREE Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy. 26207300

2015

dbSNP: rs121909210
rs121909210
0.020 GeneticVariation BEFREE Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied. 15623763

2005

dbSNP: rs780263122
rs780263122
0.010 GeneticVariation BEFREE R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China. 28377594

2017

dbSNP: rs541270955
rs541270955
0.010 GeneticVariation BEFREE The detection of the D123H mutation in three unaffected family members indicates that it has low penetrance for GCD. 12782158

2003

dbSNP: rs121909209
rs121909209
0.010 GeneticVariation BEFREE Records of patients carrying this mutation were compared with those from three unrelated patients with corneal dystrophy of Bowman's layer (CDB) type 2 (R555Q mutation) and from three unrelated patients with classic corneal granular dystrophy (R555W mutation). 10889112

2000