rs4960295

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GWAS Catalog Trait Associations (2)

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 G

OR 0.04

p 4.0e-24

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 G

OR —

β 0.008

p 2.0e-19

N 90,939

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 G

OR 0.01

p 2.0e-8

N 23,899

Large GWAS

multi-ancestry

calcium 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 0.01

p 2.0e-8

N 399,133

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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