rs4936099

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GWAS Catalog Trait Associations (4)

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

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 C

OR 0.05

p 8.0e-32

N 89,579

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 C

OR 0.01

p 1.0e-21

N 67,040

Large GWAS

European

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 C

OR 0.01

p 3.0e-9

N 23,899

Large GWAS

multi-ancestry

diastolic blood pressure

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)

Allele C

OR 0.01

p 6.0e-18

N 1,212,859

Large GWAS

European

optic disc size trait

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 C

OR 0.01

p 5.0e-9

N 21,094

Meta-analysisLarge GWAS

multi-ancestry

optic cup area

Allele C

OR 0.01

p 5.0e-8

N 22,484

Large GWAS

multi-ancestry

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

rs4936099

GWAS Catalog Trait Associations (4)

cup-to-disc ratio measurement

diastolic blood pressure

optic disc size trait

optic cup area

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