rs4658101
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
optic disc size trait
Han X et al. “Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.” Human Molecular Genetics 28(21):3680-3690 (2019)
Allele A
OR —
β 0.060
p 3.0e-160
N 67,040
Large GWAS
European
Springelkamp H et al. “Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.” Nature Communications 5:4883 (2014)
Allele A
OR 0.01
p 1.0e-15
N 21,094
Meta-analysisLarge GWAS
multi-ancestry
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 0.12
p 3.0e-27
N 379,422
Large GWAS
European
cup-to-disc ratio measurement
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 0.01
p 9.0e-35
N 67,040
Large GWAS
European
optic disc 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 0.09
p 2.0e-60
N 22,504
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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