rs2296793

This is a synonymous variant in the TOR1A gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

hip bone mineral density, hip bone size

Zhang H et al. “Pleiotropic loci underlying bone mineral density and bone size identified by a bivariate genome-wide association analysis.” Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa 31(9):1691-1701 (2020)

Allele G

OR —

p 1.0e-8

N 6,175

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

9 submitters2 publications

Dystonic disorder; Early-onset generalized limb-onset dystonia; not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Is TOR1A a risk factor in adult‐onset primary torsion dystonia?

ReviewJustus L. Groen et al.(2013)· Movement Disorders

This comprehensive literature review examines the role of single-nucleotide polymorphisms (SNPs) and genetic variants in dystonia susceptibility, reviewing 43 published studies (2001-2017) across 29 genes. Key findings include associations of TOR1A variants (rs1182, rs1801968, rs35153737) with focal dystonia, BDNF rs6265 (Val66Met) with cervical dystonia and blepharospasm, and preliminary GWAS-identified variants in ARSG (rs11655081, rs61999318) and NALCN with dystonia risk. The review concludes that genetic factors confer dystonia susceptibility through multiple pathways, though many associations require validation in larger cohorts.

Traits studied:BlepharospasmCervical dystoniaCranial dystoniaDystoniaFocal dystoniaGeneralized dystoniaMusician's dystoniaPrimary dystoniaPrimary torsion dystoniaSegmental dystoniaSpasmodic dysphoniaWriter's cramp

PubMed DOI Metascience Observatory

About TOR1A

The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]