Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939688
rs28939688
0.070 GeneticVariation BEFREE Retinal ganglion cells (RGCs) were created from induced pluripotent stem cells derived from a healthy individual (wild-type [WT]-iPSCs) and from a patient with NTG due to OPTNE50K (E50K-iPSCs) mutation. 29847634

2018

dbSNP: rs28939688
rs28939688
0.070 GeneticVariation BEFREE This phenomenon was consistent with the results seen in neurons derived from induced pluripotent stem cells (iPSCs) from E50K mutation-carrying NTG patients. 23669351

2013

dbSNP: rs28939688
rs28939688
0.070 GeneticVariation BEFREE The E50K sequence variant was identified in one individual from Chile with normal tension glaucoma, and the 691_692insAG variant was found in one Ashkenazi Jewish individual from Russia. 17293779

2007

dbSNP: rs28939688
rs28939688
0.070 GeneticVariation BEFREE Mutations in OPTN such as Glu50-->Lys (E50K) have been reported in patients, particularly those with normal pressure glaucoma. 17148662

2006

dbSNP: rs28939688
rs28939688
0.070 GeneticVariation BEFREE The E50K mutation seems to be associated with a severe form of LTG, and although rare, the identification of this sequence variant in patients at risk may help direct appropriate therapy. 16988596

2006

dbSNP: rs28939688
rs28939688
0.070 GeneticVariation BEFREE In this study, subjects with glaucoma who had the OPTN E50K mutation were found to have NTG that appeared to be more severe than that in a control group of subjects with NTG without this mutation. 16043855

2005

dbSNP: rs28939688
rs28939688
0.070 GeneticVariation BEFREE This study provides some additional evidence for the association of the Glu50Lys OPTN sequence variation with familial normal tension glaucoma. 14597044

2003