rs9493627

This is a variant in the EYA4 gene that changes a glycine to an arginine.

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GWAS Catalog Trait Associations (3)

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

hearing loss, Sensorineural hearing impairment

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.05
p 5.0e-18
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

age-related hearing impairment

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 A
OR 1.05
p 1.0e-17
N 713,633
Large GWAS
European
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 A
OR 0.01
p 1.0e-17
N 723,266
Meta-analysisLarge GWAS
European

hearing loss

De Angelis F et al. “Sex differences in the polygenic architecture of hearing problems in adults.” Genome Medicine 15(1):36 (2023)
Allele A
OR 1.04
p 1.0e-17
N 501,825
Large GWAS
multi-ancestry
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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter4 publications

not specified

View on ClinVar →

About EYA4

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

View all EYA4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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