Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909211
rs121909211
TGFBI
0.020 GeneticVariation BEFREE We report, for the first time, atypical granular corneal dystrophy type 2 with cornea guttata associated with a single R124H mutation in a Chinese family. 30871369

2019
dbSNP: rs121909211
rs121909211
TGFBI
0.020 GeneticVariation BEFREE Corneal guttata associated with the corneal dystrophy resulting from a betaig-h3 R124H mutation. 10611102

2000