Disease: Avellino corneal dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909212
rs121909212
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1275685
Disease:
Avellino corneal dystrophy 		0.010 GeneticVariation BEFREE The incidence of mutations was ranked as follows: 118 patients (72%), the R124H mutation associated with Avellino corneal dystrophy; 23 patients (14%), the R124C mutation associated with lattice corneal dystrophy type 1; and 10 patients (6%), the P501T mutation associated with lattice corneal dystrophy type 3A. 11024425 2000