Variant: rs74315329 

    present in Gene: MYOC;MYOCOS
    present in Chromosome: 1
    Position on Chromosome: 171636338
    Alleles of this Variant: G/A

rs74315329 in MYOC;MYOCOS gene and Glaucoma PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

rs74315329 in MYOC;MYOCOS gene and Glaucoma, Primary Open Angle PMID 22933836 2012 Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.

PMID 23304066 2012 To describe the phenotype of ocular hypertension and primary open-angle glaucoma in a family with individuals compound heterozygote for Gln368STOP and Thr377Met myocilin (MYOC) mutations.

PMID 9005853 1997 Identification of a gene that causes primary open angle glaucoma.

PMID 24732711 2014 Cellular processing of myocilin.

PMID 17562996 2007 Myocilin variants in Indian patients with open-angle glaucoma.

PMID 9639450 1998 A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia.

PMID 17615537 2007 Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.

PMID 20021252 2010 In the primary open angle glaucoma family described here, we documented a wide range in clinical symptoms, demonstrating a highly variable penetrance of the MYOC p.Gln368X mutation.

PMID 11803488 2001 Ten occurrences of four different sequence changes were detected, including: 1) five times the same disease-causing mutation (Q368X) in five unrelated POAG patients and 2) three distinct polymorphisms in five patients.

PMID 10815160 2000 We identified the Gln368stop molecular defect in 19 patients with POAG, 5 patients with ocular hypertension, and 22 healthy carriers.

PMID 11535458 2001 For Gln368STOP carriers, age-related penetrance for OHT or POAG was 72% at age 40 years and 82% at age 65 years.

PMID 11815346 2002 Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.

PMID 19023451 2008 Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin.

PMID 12872267 2003 A single mutation, Q368X (c.1102C>T), accounted for the majority (12/17) of these mutations, corresponding to a frequency of 5% among POAG patients, the highest ever reported for this mutation.

PMID 12189160 2002 Founder TIGR/myocilin mutations for glaucoma in the Québec population.