rs78593025

This variant is located in the TOX3 gene.

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GWAS Catalog Trait Associations (1)

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

restless legs syndrome

Schormair B et al. “Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction.” Nature Genetics 56(6):1090-1099 (2024)

Allele T

OR 0.08

p 2.0e-66

N 1,663,113

Large GWAS

European

About TOX3

The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]

View all TOX3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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