rs4714163
This variant is located in the BTBD9 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 0.30
p 2.0e-220
N 739,908
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]
View all BTBD9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…