rs7130190

This variant is located in the OTOG gene.

GWAS Catalog Trait Associations (1)

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

Vertigo

Skuladottir AT et al. A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo. Communications Biology 4(1):1148 (2021)
Allele T
OR 1.08
p 9.0e-14
N 942,613
Meta-analysisLarge GWAS
European

ClinVar annotation

Benign★★★
5 submitters3 publications

not specified; not provided

View on ClinVar →

About OTOG

The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]

View all OTOG variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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