Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909212
rs121909212
TGFBI
A 0.700 GeneticVariation CLINVAR Mutational spectrum of Korean patients with corneal dystrophy. 26748743

2016
dbSNP: rs121909212
rs121909212
TGFBI
A 0.700 GeneticVariation CLINVAR Unilateral Variant of Late-Onset Lattice Corneal Dystrophy With the Pro501Thr Mutation in the TGFBI Gene Without Deposits in the Unaffected Cornea Using Confocal Microscopy. 23884333

2013
dbSNP: rs121909212
rs121909212
TGFBI
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy. 21462384

2011
dbSNP: rs121909212
rs121909212
TGFBI
A 0.700 GeneticVariation CLINVAR A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene. 16809844

2006
dbSNP: rs121909212
rs121909212
TGFBI
A 0.700 GeneticVariation CLINVAR Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. 12400061

2002
dbSNP: rs121909212
rs121909212
TGFBI
A 0.700 GeneticVariation CLINVAR Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy. 11004271

2000
dbSNP: rs121909212
rs121909212
TGFBI
A 0.700 GeneticVariation CLINVAR A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. 9497262

1998