Variant: rs121909216 

    present in Gene: TGFBI
    present in Chromosome: 5
    Position on Chromosome: 136055795
    Alleles of this Variant: T/G

rs121909216 in TGFBI gene and Corneal dystrophy, epithelial basement membrane PMID 16652336 2006 A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.