Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909216
rs121909216
TGFBI
0.810 GeneticVariation BEFREE The p.Leu509Pro was reported to be associated with both amyloid and non-amyloid aggregates, whereas p.Leu509Arg has been described as being responsible for Epithelial Basement Membrane Dystrophy (EBMD). 21617751

2011
dbSNP: rs121909216
rs121909216
TGFBI
0.810 GeneticVariation UNIPROT A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. 16652336

2006
dbSNP: rs121909216
rs121909216
TGFBI
G 0.810 CausalMutation CLINVAR

dbSNP: rs121909217
rs121909217
TGFBI
0.800 GeneticVariation UNIPROT A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. 16652336

2006
dbSNP: rs121909217
rs121909217
TGFBI
C 0.800 CausalMutation CLINVAR

dbSNP: rs121909215
rs121909215
TGFBI
0.010 GeneticVariation BEFREE In this cohort, the p.(G623D) mutation caused a greater proportion of TGFBI-associated disease than anticipated, associated with variable phenotypes including individuals diagnosed with EBMD. 27737463

2016