Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1463326176
rs1463326176
0.020 GeneticVariation BEFREE Using the P23T mutant of human γD-crystallin, a protein associated with congenital cataract, we have demonstrated that the equilibrium solubility boundary and solution behavior measured using phase diagrams of purified protein solutions is consistent with the assembly of the protein expressed in cell-free expression medium in artificial cells (without fluorescent labelling) and condensates formed in mammalian cells, thereby directly connecting in vitro measurements with those performed under physiological conditions. 28401204

2017

dbSNP: rs1463326176
rs1463326176
0.020 GeneticVariation BEFREE We describe the structure and morphology of aggregates formed by the P23T human γD-crystallin mutant associated with congenital cataracts. 28474685

2017