rs6586163

This is a upstream gene variant variant in the ACTA2 gene.

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GWAS Catalog Trait Associations (1)

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

chronic lymphocytic leukemia

Law PJ et al. “Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.” Nature Communications 8:14175 (2017)

Allele A

OR 1.23

p 1.0e-15

N 17,691

Large GWAS

European

About ACTA2

This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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