rs2472493

This variant is located in the LOC105376196 gene.

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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

Khawaja AP et al. “Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.” Nature Genetics 50(6):778-782 (2018)

Allele G

OR 0.21

p 6.0e-59

N 139,555

Large GWAS

European

Craig JE et al. “Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.” Nature Genetics 52(2):160-166 (2020)

Allele G

OR —

p 3.0e-51

N 133,492

Large GWAS

European

Hysi PG et al. “Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.” Nature Genetics 46(10):1126-1130 (2014)

Allele G

OR 0.16

p 3.0e-11

N 35,296

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 G

OR 0.15

p 1.0e-8

N 31,269

Large GWAS

European

open-angle glaucoma

Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)

Allele A

OR 0.14

p 6.0e-43

N 1,487,447

Meta-analysisLarge GWAS

multi-ancestry

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 0.84

p 2.0e-29

N 136,393

Meta-analysisLarge GWAS

multi-ancestry

Choquet H et al. “A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.” Nature Communications 9(1):2278 (2018)

Allele A

OR 1.15

p 6.0e-17

N 63,412

Large GWAS

multi-ancestry

Gharahkhani P et al. “Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.” Nature Genetics 46(10):1120-1125 (2014)

Allele A

OR 1.31

p 2.0e-19

N 3,077

Large GWAS

European

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 A

OR 0.14

p 3.0e-22

N 279,594

Large GWAS

multi-ancestry

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)

Allele A

OR 0.17

p 8.0e-17

N 100,868

Major Consortium StudyLarge GWAS

European

glaucoma

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 0.15

p 1.0e-39

N 662,330

Large GWAS

multi-ancestry

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 0.19

p 2.0e-22

N 394,626

Large GWAS

European

Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)

Allele G

OR 0.87

p 1.0e-11

N 212,453

Large GWAS

East Asian

MacGregor S et al. “Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.” Nature Genetics 50(8):1067-1071 (2018)

Allele G

OR 1.19

p 4.0e-30

N 137,086

Large GWAS

European

Craig JE et al. “Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.” Nature Genetics 52(2):160-166 (2020)

Allele G

OR 1.16

p 2.0e-19

N 127,265

Large GWAS

European

Xue Z et al. “Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank.” Ebiomedicine 82:104161 (2022)

Allele G

OR 0.15

p 2.0e-18

N 68,390

Meta-analysisMajor Consortium StudyLarge GWAS

European

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

rs2472493

GWAS Catalog Trait Associations (4)

intraocular pressure measurement

open-angle glaucoma

Antiglaucoma preparations and miotics use measurement

glaucoma

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