Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909210
rs121909210
TGFBI
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		0.900 GeneticVariation UNIPROT A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I. 17013691

2006
dbSNP: rs121909210
rs121909210
TGFBI
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		0.900 GeneticVariation UNIPROT Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. 16541014

2006
dbSNP: rs121909210
rs121909210
TGFBI
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		0.900 GeneticVariation UNIPROT Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied. 15623763

2005
dbSNP: rs121909210
rs121909210
TGFBI
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		0.900 GeneticVariation UNIPROT Although a slit-lamp examination showed features of LCDI in most cases, the age at onset of the symptoms was several years later than that in cases of LCDI with an R124C mutation. 15838722

2005
dbSNP: rs121909210
rs121909210
TGFBI
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		0.900 GeneticVariation UNIPROT Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. 15531312

2004
dbSNP: rs121909210
rs121909210
TGFBI
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		0.900 GeneticVariation UNIPROT A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. 14597039

2003
dbSNP: rs121909210
rs121909210
TGFBI
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		0.900 GeneticVariation UNIPROT Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene. 11413411

2001
dbSNP: rs121909210
rs121909210
TGFBI
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		0.900 GeneticVariation UNIPROT To report a Japanese family diagnosed clinically as having lattice corneal dystrophy type I (LCDI) in which a Leu518Pro mutation in the betaig-h3 gene and not the R124C mutation reported previously was found. 10837380

2000
dbSNP: rs121909210
rs121909210
TGFBI
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		0.900 GeneticVariation UNIPROT A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. 9799082

1998