Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937873
rs28937873
0.010 GeneticVariation BEFREE Three patients who were homozygous for R311Q had posterior subcapsular cataracts and a concentric ring of round pigment clumps.Electroretinograms were extinguished. 19139342

2009