rs2973548

This variant is located in the ARHGEF28 gene.

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GWAS Catalog Trait Associations (2)

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

able to hear with hearing aids

Cornejo-Sanchez DM et al. “Rare-variant association analysis reveals known and new age-related hearing loss genes.” European Journal of Human Genetics : Ejhg 31(6):638-647 (2023)

Allele T

OR 0.11

p 3.0e-8

N 103,037

Large GWAS

European

hearing loss

Cornejo-Sanchez DM et al. “Rare-variant association analysis reveals known and new age-related hearing loss genes.” European Journal of Human Genetics : Ejhg 31(6):638-647 (2023)

Allele T

OR 0.05

p 5.0e-8

N 142,103

Large GWAS

European

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ClinVar annotation

Benign★★★☆

6 submitters1 publication

not specified; not provided

View on ClinVar →

About ARHGEF28

This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]