rs9262126

This is a downstream gene variant variant in the ATAT1 gene.

GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

diastolic blood pressure

Plotnikov D et al. High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study. Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele A
OR 0.22
p 7.0e-11
N 526,001
Large GWAS
European

reaction time measurement

Allele G
OR 0.02
p 5.0e-10
N 404,449
Large GWAS
European

About ATAT1

This gene encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis and the formation of cilium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

View all ATAT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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