rs17112252

This is a intron variant variant in the ATOX1 gene.

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GWAS Catalog Trait Associations (1)

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

systolic blood pressure change measurement

Justice AE et al. “Genome-wide association of trajectories of systolic blood pressure change.” Bmc Proceedings 10(Suppl 7):321-327 (2016)

Allele A

OR 0.47

p 1.0e-8

N 703

Small GWAS

Hispanic or Latin American

About ATOX1

This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]

View all ATOX1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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