rs121909208, TGFBI

N. diseases: 13
Disease: Avellino corneal dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.010 GeneticVariation BEFREE In 68 unrelated patients who had been diagnosed with GCD, 62 patients (91%) were found to have the R124H mutation, which has been reported to cause ACD, whereas only six patients (9%) had the R555W mutation. 10832717 2000