Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917735
rs121917735
MAF ; LOC101928230
0.010 GeneticVariation BEFREE MAF expression constructs were constructed with the wildtype MAF sequence and with each of the three known mutations, i.e., R288P (associated with pulverulent cataract), K297R (associated with cerulean cataract), and R299S (associated with the most severe phenotype, congenital cataract, and microcornea syndrome). 25064449

2014
dbSNP: rs121917736
rs121917736
MAF ; LOC101928230
0.010 GeneticVariation BEFREE MAF expression constructs were constructed with the wildtype MAF sequence and with each of the three known mutations, i.e., R288P (associated with pulverulent cataract), K297R (associated with cerulean cataract), and R299S (associated with the most severe phenotype, congenital cataract, and microcornea syndrome). 25064449

2014
dbSNP: rs377423839
rs377423839
BFSP2
0.010 GeneticVariation BEFREE A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities. 24654948

2014
dbSNP: rs786205221
rs786205221
MAF ; LOC101928230
0.010 GeneticVariation BEFREE MAF expression constructs were constructed with the wildtype MAF sequence and with each of the three known mutations, i.e., R288P (associated with pulverulent cataract), K297R (associated with cerulean cataract), and R299S (associated with the most severe phenotype, congenital cataract, and microcornea syndrome). 25064449

2014