rs61192259

This is a downstream gene variant variant in the BTBD9 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. “Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.” The Lancet. Neurology 16(11):898-907 (2017)

Allele A

OR 1.26

p 4.0e-202

N 110,851

Meta-analysisLarge GWAS

European

Didriksen M et al. “Large genome-wide association study identifies three novel risk variants for restless legs syndrome.” Communications Biology 3(1):703 (2020)

Allele A

OR 0.79

p 2.0e-103

N 480,982

Large GWAS

European

About BTBD9

This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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