rs2973549
This variant is located in the ARHGEF28 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 A
OR 0.11
p 1.0e-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 A
OR 0.05
p 2.0e-8
N 142,103
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout 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]
View all ARHGEF28 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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