Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909208
rs121909208
0.070 GeneticVariation BEFREE The p. Arg555Trp mutation of the TGFBI gene was associated with TBCD, which revealed a novel phenotype-genotype correlation within the mutational spectrum of phenotypically diverse corneal dystrophies. 26464103

2015

dbSNP: rs121909208
rs121909208
0.070 GeneticVariation BEFREE To gain insight into the mechanisms underlying the transforming growth factor-beta induced (TGFBI)-related corneal dystrophies and the influence of the Arg555Trp and Thr538Pro, TGFBI mutations on C-terminal cleavage and cell endoplasmic reticulum (ER) stress were investigated. 22605926

2012

dbSNP: rs121909208
rs121909208
0.070 GeneticVariation BEFREE Five mutations of TGFBI were identified in 21 families with CDs, including one novel small deletion mutation, c.delta1838-1849 (p.Delta613-616VAEP), responsible for one variant lattice CD (LCD) family and 4 known mutations, R555W mutation for 10 granular cornea dystrophy type I (GCD1) families, R124H for 5 GCD type II (GCD2), R124C for 4 LCD1, and H626R for one variant LCD. 20664689

2010

dbSNP: rs121909208
rs121909208
0.070 GeneticVariation BEFREE R124C and R555W TGFBI mutations cause lattice and granular type I corneal dystrophies in the studied families. 17768377

2007

dbSNP: rs121909208
rs121909208
0.070 GeneticVariation BEFREE In our study, 5 previously reported mutations of the TGFBI gene - R124C, R124H, R124L (exon 4), R555W, R555Q (exon 12) - were analyzed using polymerase chain reaction followed by restriction digestion in 48 individuals from 19 unrelated families with different forms of corneal dystrophy from different regions of Ukraine. 15564760

2005

dbSNP: rs121909208
rs121909208
0.070 GeneticVariation BEFREE Diagnoses included Thiel-Benhke CD (TBCD/R555Q) (13 eyes), classic granular CD (CGCD/R555W) (28 eyes), superficial variant of granular dystrophy (SVGD/R124 l) (27 eyes), lattice CD type I (LCDI/R124C) (20 eyes), Avellino CD (ACD/R124H) (2 eyes), H626R-lattice dystrophy (LCD/H626R) (6 eyes), and two novel dystrophies: a French variant of granular dystrophy (FVGD/R124 l+DT125-DE126) (9 eyes) and a French lattice CD type IIIA (LCDIIIA/A546T) (5 eyes). 11927442

2002

dbSNP: rs121909208
rs121909208
0.070 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