rs201530
This is a intron variant variant in the CUX1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
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 A
OR 0.03
p 2.0e-14
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 A
OR —
β 0.005
p 7.0e-10
N 90,939
Large GWAS
European
About CUX1
The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]
View all CUX1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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