Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909210
rs121909210
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
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
dbSNP: rs121909210
rs121909210
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
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
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
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
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
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
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
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
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
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
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
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
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
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
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
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: rs121909211
rs121909211
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1275685
Disease:
Avellino corneal dystrophy 		0.900 GeneticVariation UNIPROT
dbSNP: rs121909211
rs121909211
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0339278
Disease:
Reis-Bucklers' corneal dystrophy 		0.880 GeneticVariation UNIPROT A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online. 10660331 1998
dbSNP: rs121909211
rs121909211
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0339278
Disease:
Reis-Bucklers' corneal dystrophy 		0.880 GeneticVariation UNIPROT Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy. 9780098 1998
dbSNP: rs121909211
rs121909211
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0339278
Disease:
Reis-Bucklers' corneal dystrophy 		0.880 GeneticVariation UNIPROT 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: rs121909208
rs121909208
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1641846
Disease:
Groenouw corneal dystrophy type I (disorder) 		0.850 GeneticVariation UNIPROT TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. 15623763 2005
dbSNP: rs121909209
rs121909209
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1562894
Disease:
Thiel-Behnke corneal dystrophy 		0.840 GeneticVariation UNIPROT
dbSNP: rs121909212
rs121909212
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1837974
Disease:
Corneal Dystrophy, Lattice Type IIIA 		0.830 GeneticVariation UNIPROT A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. 9497262 1998
dbSNP: rs121909212
rs121909212
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1837974
Disease:
Corneal Dystrophy, Lattice Type IIIA 		0.830 GeneticVariation UNIPROT Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. 15790870 2005
dbSNP: rs121909216
rs121909216
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0521723
Disease:
Corneal dystrophy, epithelial basement membrane 		0.810 GeneticVariation UNIPROT A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. 16652336 2006
dbSNP: rs121909210
rs121909210
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1641846
Disease:
Groenouw corneal dystrophy type I (disorder) 		0.800 GeneticVariation UNIPROT TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. 15623763 2005
dbSNP: rs121909214
rs121909214
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1837974
Disease:
Corneal Dystrophy, Lattice Type IIIA 		0.800 GeneticVariation UNIPROT Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. 15790870 2005
dbSNP: rs121909214
rs121909214
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1837974
Disease:
Corneal Dystrophy, Lattice Type IIIA 		0.800 GeneticVariation UNIPROT A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. 9497262 1998
dbSNP: rs121909217
rs121909217
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0521723
Disease:
Corneal dystrophy, epithelial basement membrane 		0.800 GeneticVariation UNIPROT A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. 16652336 2006
dbSNP: rs1050842080
rs1050842080
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.740 GeneticVariation UNIPROT
dbSNP: rs267607109
rs267607109
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.740 GeneticVariation UNIPROT Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene. 10837380 2000
dbSNP: rs267607109
rs267607109
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.740 GeneticVariation UNIPROT A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. 14597039 2003