rs143796236

This variant is located in the FSCN2 gene.

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GWAS Catalog Trait Associations (1)

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

age-related hearing impairment

Trpchevska N et al. “Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.” American Journal of Human Genetics 109(6):1077-1091 (2022)
Allele T
OR 0.04
p 3.0e-10
N 723,266
Meta-analysisLarge GWAS
European
Ivarsdottir EV et al. “The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.” Communications Biology 4(1):706 (2021)
Allele T
OR 1.20
p 7.0e-10
N 713,633
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
5 submitters2 publications

not specified; not provided

View on ClinVar →

About FSCN2

This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all FSCN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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