Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909211
rs121909211
TGFBI
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: rs121909211
rs121909211
TGFBI
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
TGFBI
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
TGFBI
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
TGFBI
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
TGFBI
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: rs121909210
rs121909210
TGFBI
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: rs121909210
rs121909210
TGFBI
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: rs121909209
rs121909209
TGFBI
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
dbSNP: rs541270955
rs541270955
TGFBI
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: rs780263122
rs780263122
PLK3
0.010 GeneticVariation BEFREE R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China. 28377594

2017