Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315329
rs74315329
0.800 GeneticVariation BEFREE The MYOC p.Gln368Ter variant confers a very high-risk effect size for advanced glaucoma; the risk is lower in nonadvanced glaucoma and OHT. 30267046

2019

dbSNP: rs74315329
rs74315329
0.800 GeneticVariation BEFREE These data suggest that the p.Gln368Ter mutation may be associated with glaucoma in patients with normal IOPs as well as in patients with IOPs that are greater than 21 mm Hg. 30816940

2019

dbSNP: rs74315329
rs74315329
A 0.800 GeneticVariation GWASCAT Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. 30104761

2018

dbSNP: rs74315329
rs74315329
0.800 GeneticVariation BEFREE Thus, our study suggests a much lower penetrance for rs74315329 for ocular hypertension (and thus glaucoma), in comparison with that reported previously. 28038983

2017

dbSNP: rs74315329
rs74315329
0.800 GeneticVariation BEFREE A case-control design was adopted.Subjects from Australian pedigrees known to have either the Gln368STOP myocilin mutation (cutoff age, <40 years) or the Thr377Met myocilin mutation (cutoff age, <30 years) were examined for signs of glaucoma. 17210861

2007

dbSNP: rs74315329
rs74315329
0.800 GeneticVariation BEFREE Neither the individual homozygous for the Gln368STOP myocilin mutation nor her younger heterozygous siblings displayed any signs suggestive of glaucoma. 16458712

2006

dbSNP: rs74315329
rs74315329
0.800 GeneticVariation BEFREE Of 11 group-1 relatives, three carried Q368X, one of whom already had glaucoma. 15338275

2004

dbSNP: rs74315329
rs74315329
0.800 GeneticVariation BEFREE A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation. 12470758

2002

dbSNP: rs74315329
rs74315329
0.800 GeneticVariation BEFREE The GLC1A Gln368STOP mutation is associated with POAG, which in the pedigrees studied is of a younger age of onset and higher peak IOP than non-mutation glaucoma cases. 11535458

2001

dbSNP: rs74315329
rs74315329
0.800 GeneticVariation BEFREE The penetrance of glaucoma increases with age in Gln368stop carriers, but some remain unaffected at advanced age and others are affected at an early age. 10815160

2000

dbSNP: rs74315329
rs74315329
0.800 GeneticVariation BEFREE Of these, the Gln368STOP mutation was highly associated with the development of glaucoma. 9804137

1998