rs2472494

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GWAS Catalog Trait Associations (4)

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

intraocular pressure measurement

Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)
Allele T
OR 0.20
p 3.0e-49
N 115,486
Large GWAS
European
Han X et al. “Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study.” Jama Ophthalmology 138(6):671-678 (2020)
Allele T
OR 0.20
p 6.0e-43
N 101,939
Major Consortium StudyLarge GWAS
European
Huang L et al. “Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population.” Science China. Life Sciences 62(2):153-164 (2019)
Allele T
OR 6.60
p 4.0e-11
N 5,571
Large GWAS
East Asian

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 T
OR 1.23
p 4.0e-13
N 51,244
Meta-analysisLarge GWAS
multi-ancestry

Antiglaucoma preparations and miotics use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.11
p 3.0e-8
N 178,726
Large GWAS
East Asian

open-angle glaucoma

Han X et al. “Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.” Nature Genetics 55(7):1116-1125 (2023)
Allele T
OR 0.18
p 2.0e-101
N 379,422
Large GWAS
European
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 T
OR 1.30
p 7.0e-27
N 53,141
Meta-analysisLarge GWAS
multi-ancestry
Shiga Y et al. “Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma.” Human Molecular Genetics 27(8):1486-1496 (2018)
Allele T
OR 1.19
p 2.0e-9
N 22,795
Large 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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