rs12494328

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GWAS Catalog Trait Associations (5)

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

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 0.06
p 8.0e-25
N 430,721
Major Consortium StudyLarge GWAS
European

open-angle 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 0.07
p 3.0e-24
N 434,033
Major Consortium StudyLarge GWAS
European

cup-to-disc ratio measurement

Alipanahi B et al. “Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.” American Journal of Human Genetics 108(7):1217-1230 (2021)
Allele G
OR 0.04
p 6.0e-16
N 89,579
Large GWAS
European

optic cup area

Springelkamp H et al. “New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.” Human Molecular Genetics 26(2):438-453 (2017)
Allele A
OR 0.02
p 6.0e-11
N 22,484
Large GWAS
multi-ancestry
Bonnemaijer PWM et al. “Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.” Communications Biology 2:435 (2019)
Allele A
OR 0.01
p 1.0e-8
N 24,493
Large GWAS
European

low tension 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 1.19
p 2.0e-8
N 51,244
Meta-analysisLarge GWAS
multi-ancestry

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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