Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE The family with the R124H mutation was diagnosed with granular corneal dystrophy type 2. 28358433

2017

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China. 28377594

2017

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE To correct genetic defects in GCD patient cells, we designed a disease-specific guide RNA (gRNA) targeting the R124H mutation of TGFBI, which causes GCD type 2 (GCD2). 29196743

2017

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE Typical corneal non-amyloid deposits from GCD type 2 (R124H), amyloid from a variant of LCD type 1 (V624M) and disease-free tissue controls were procured by laser capture microdissection and analyzed by tandem mass spectrometry. 22155582

2012

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE The most common mutations in Taiwan were R124H in GCD type 2 and R555W in GCD type 1. 22355247

2012

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE PCFs were isolated from the corneas of normal subjects and GCD II patients who were heterozygous and homozygous for the TGFBI R124H mutation. 19933198

2010

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE We identified the following mutations: lattice corneal dystrophy--R124C and A546T; Reis-Bücklers corneal dystrophy--R555Q and R124L; granular corneal dystrophy--R555W and Avellino dystrophy--R555W. 16440005

2007

dbSNP: rs121909211
rs121909211
0.100 GeneticVariation BEFREE In GCD, 18 patients with GCD type I had a mutation of arginine 555-to-tryptophan (Arg555Trp) and 1 patient with GCD type III (Reis-Bucklers dystrophy), had the Arg124Leu mutation. 15623763

2005

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 Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare. 11095060

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: 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