rs121909208, TGFBI

N. diseases: 13
Disease: Corneal deposit ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Corneal deposit
CUI: C0162281
Disease: Corneal deposit
0.020 GeneticVariation BEFREE Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI. 28060069 2017
Corneal deposit
CUI: C0162281
Disease: Corneal deposit
0.020 GeneticVariation BEFREE To report the appearance of an unusual vortex pattern of corneal deposits in two patients with the R555W mutation in the transforming growth factor beta-induced gene (TGFB1) associated with granular corneal dystrophy. 14576527 2003