rs4919669

This is a regulatory region variant variant in the ARL3 gene.

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GWAS Catalog Trait Associations (2)

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

systolic blood pressure

Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele A
OR 0.49
p 5.0e-11
N 130,777
Large GWAS
multi-ancestry
Li C et al. “Genome-Wide Association Study Meta-Analysis of Long-Term Average Blood Pressure in East Asians.” Circulation. Cardiovascular Genetics 10(2):e001527 (2017)
Allele A
OR 0.65
p 3.0e-8
N 18,422
Meta-analysisLarge GWAS
multi-ancestry

mean arterial pressure

Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele A
OR 0.32
p 2.0e-9
N 130,777
Large GWAS
multi-ancestry
Li C et al. “Genome-Wide Association Study Meta-Analysis of Long-Term Average Blood Pressure in East Asians.” Circulation. Cardiovascular Genetics 10(2):e001527 (2017)
Allele A
OR 0.44
p 3.0e-8
N 18,422
Meta-analysisLarge GWAS
multi-ancestry

About ARL3

Enables GDP binding activity; GTP binding activity; and microtubule binding activity. Involved in several processes, including cilium assembly; protein localization to cilium; and small GTPase-mediated signal transduction. Acts upstream of or within post-Golgi vesicle-mediated transport. Located in several cellular components, including microtubule cytoskeleton; midbody; and photoreceptor connecting cilium. Implicated in Joubert syndrome and retinitis pigmentosa 83. [provided by Alliance of Genome Resources, Jul 2025]

View all ARL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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