Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909596
rs121909596
0.030 GeneticVariation BEFREE In a nutshell, the increased surface hydrophobicity could be the cause of self-aggregation of mutant R58H leading to aculeiform cataract. 29532225

2018

dbSNP: rs121909596
rs121909596
0.030 GeneticVariation BEFREE Interestingly, a mutation of different codon, i.e., p.Arg58His in CRYGD has been reported to be linked with aculeiform cataract in four different families; two from Switzerland, one from Macedonia and in a Mexican family. 22669729

2012

dbSNP: rs121909596
rs121909596
0.030 GeneticVariation BEFREE The R58H mutation described in this Mexican family is identical to that demonstrated previously in three unrelated families with aculeiform cataract, suggesting that this type of cataract has a specific molecular basis represented by the Arg to His change at residue 58 of CRYGD. 16030500

2005