rs4832012

This variant is located in the ATOH8 gene.

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GWAS Catalog Trait Associations (1)

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 C

OR —

β 0.010

p 9.0e-13

N 67,040

Large GWAS

European

About ATOH8

Enables DNA-binding transcription factor activity and E-box binding activity. Involved in several processes, including positive regulation of SMAD protein signal transduction; positive regulation of endothelial cell differentiation; and regulation of gene expression. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all ATOH8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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