rs9905786

This variant is located in the NPLOC4 gene.

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GWAS Catalog Trait Associations (2)

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 T
OR —
β 0.020
p 5.0e-25
N 67,040
Large 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 G
OR 0.03
p 3.0e-9
N 89,579
Large GWAS
European

About NPLOC4

Predicted to enable ubiquitin binding activity and ubiquitin protein ligase binding activity. Predicted to contribute to K48-linked polyubiquitin modification-dependent protein binding activity and K63-linked polyubiquitin modification-dependent protein binding activity. Involved in negative regulation of RIG-I signaling pathway; negative regulation of type I interferon production; and proteolysis involved in protein catabolic process. Located in nucleus. Part of UFD1-NPL4 complex and VCP-NPL4-UFD1 AAA ATPase complex. [provided by Alliance of Genome Resources, Jul 2025]

View all NPLOC4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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