rs74315329

This is a stop gained variant in the MYOC gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

level of myocilin in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 1.76
p 9.0e-124
N 47,745
Large GWAS
European

open-angle glaucoma

Gharahkhani P et al. “Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.” Nature Communications 12(1):1258 (2021)
Allele A
OR 1.10
p 1.0e-42
N 383,500
Meta-analysisLarge GWAS
multi-ancestry
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele A
OR 1.84
p 2.0e-34
N 1,172,905
Meta-analysisLarge GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.75
p 3.0e-29
N 434,033
Major Consortium StudyLarge GWAS
European

glaucoma

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 1.14
p 3.0e-31
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 2.12
p 2.0e-28
N 662,330
Large GWAS
multi-ancestry
Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)
Allele G
OR 6.53
p 3.0e-13
N 456,348
Large GWAS
European
Zhou W et al. “Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.” Nature Genetics 50(9):1335-1341 (2018)
Allele G
OR —
p 9.0e-16
N 402,223
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 1.71
p 3.0e-27
N 394,626
Large GWAS
European

drug use measurement, glaucoma

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 1.21
p 4.0e-28
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

intraocular pressure measurement

Gao XR et al. “Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma.” Nature Communications 13(1):7376 (2022)
Allele A
OR 2.12
p 1.0e-26
N 98,674
Large GWAS
European
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ClinVar annotation

Pathogenic★★★★
16 submitters24 publications

Glaucoma 1, open angle, A (GLC1A); Glaucoma of childhood; Primary open angle glaucoma (POAG)

View on ClinVar →
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Research that mentions this SNP (1)

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Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies
ReviewXikun Han et al.(2019)· JAMA Ophthalmology

A narrative review of genetic risk profiling for primary open-angle glaucoma (POAG), examining the role of polygenic risk scores (PRS) in disease prediction and risk stratification. The paper discusses glaucoma genetics, including key genes like MYOC (p.Gln368Ter, rs74315329) and endophenotypes (IOP, vertical cup-disc ratio), demonstrating that PRS can improve prediction accuracy (AUC 0.80 vs 0.73 without PRS) and identify high-risk individuals 10 years earlier than low-risk groups.

Traits studied:High-tension glaucoma (HTG)Intraocular pressure (IOP)Normal-tension glaucoma (NTG)Primary open-angle glaucoma (POAG)Vertical cup-disc ratio (VCDR)
PubMedDOIMetascience Observatory

About MYOC

MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]

View all MYOC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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