rs55680021

This is a intron variant variant in the FOXJ2 gene.

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GWAS Catalog Trait Associations (1)

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

erythrocyte volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele T

OR 0.02

p 1.0e-12

N 408,112

Large GWAS

European

About FOXJ2

Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Involved in several processes, including negative regulation of angiogenesis; negative regulation of blood vessel endothelial cell differentiation; and positive regulation of vascular associated smooth muscle cell proliferation. Located in fibrillar center and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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