rs112066680
This is a intron variant variant in the ATP9B 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.
color vision disorder
Nardone GG et al. “Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations.” Frontiers in Genetics 14:1161696 (2023)
Allele G
OR 0.22
p 4.0e-9
N 520
Small GWAS
Other
About ATP9B
Predicted to enable ATPase-coupled intramembrane lipid transporter activity. Predicted to be involved in endocytosis; phospholipid translocation; and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in perinuclear region of cytoplasm and trans-Golgi network. [provided by Alliance of Genome Resources, Jul 2025]
View all ATP9B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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