rs2745572

This variant is located in the LOC102723944 gene.

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GWAS Catalog Trait Associations (5)

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

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 A
OR 0.14
p 9.0e-52
N 379,422
Large GWAS
European
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele A
OR 0.10
p 8.0e-25
N 1,487,447
Meta-analysisLarge GWAS
multi-ancestry
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 0.07
p 6.0e-28
N 434,033
Major Consortium StudyLarge 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 A
OR 1.20
p 3.0e-13
N 53,141
Meta-analysisLarge GWAS
multi-ancestry
Bailey JN et al. “Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.” Nature Genetics 48(2):189-94 (2016)
Allele A
OR 1.17
p 2.0e-10
N 37,333
Large GWAS
multi-ancestry

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 A
OR 0.07
p 1.0e-39
N 430,721
Major Consortium StudyLarge GWAS
European
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 0.10
p 4.0e-19
N 662,330
Large GWAS
multi-ancestry
MacGregor S et al. “Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.” Nature Genetics 50(8):1067-1071 (2018)
Allele A
OR 1.13
p 1.0e-13
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 A
OR 1.12
p 1.0e-10
N 127,265
Large GWAS
European

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 A
OR 0.15
p 2.0e-28
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 A
OR —
p 4.0e-22
N 133,492
Large GWAS
European
Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)
Allele A
OR 0.16
p 2.0e-27
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 A
OR 0.14
p 4.0e-18
N 101,939
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 A
OR 0.00
p 3.0e-9
N 65,680
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 A
OR 0.11
p 9.0e-19
N 404,034
Major Consortium StudyLarge 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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