rs75654767, OPTN

N. diseases: 4
Disease: Glaucoma, primary ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glaucoma, primary
CUI: C0543982
Disease: Glaucoma, primary
0.010 GeneticVariation BEFREE Homozygous p.[Thr34=;Thr34=] (4/112, 4%), homozygous p.[Met98Lys;Met98Lys] (4/112, 4%), or combined heterozygous p.[Thr34=;Arg545Gln] (9/112, 8%) was significantly associated with the development of primary glaucoma [odds ratio (OR)=8.768, 95% confidence interval (CI)=1.972‑38.988; relative risk=1.818, 95% CI=1.473‑2.244; P=0.001]. 27485216 2016