rs56146220

This is a intron variant variant in the RIMS2 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 A

OR 0.05

p 2.0e-9

N 923,205

Large GWAS

European

About RIMS2

The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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