Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909210
rs121909210
0.020 GeneticVariation BEFREE All subjects recruited exhibited a range of corneal dystrophies, including Thiel-Behnke corneal dystrophy (TBCD, R555Q; 6 families and 4 individuals), granular corneal dystrophy type 2 (GCD2, R124H; 61 families and 80 individuals), lattice corneal dystrophy (LCD; 4 families and 5 individuals; 7 with type 1 [R124C], and 2 with a variant [L527R, P542R]). 22876129

2012

dbSNP: rs121909210
rs121909210
0.020 GeneticVariation BEFREE The Arg124Cys mutation was associated with TBCD in 2 Chinese families. 19433713

2009