rs143126474

This variant is located in the LHFPL5 gene.

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GWAS Catalog Trait Associations (1)

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

semaphorin-3G measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.30

p 2.0e-15

N 47,745

Large GWAS

European

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ClinVar annotation

Conflicting Classifications

2 submitters

Autosomal recessive nonsyndromic hearing loss 67; not provided

View on ClinVar →

About LHFPL5

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]

View all LHFPL5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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