rs35887622

This is a variant in the GJB2 gene that changes a methionine to an threonine.

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GWAS Catalog Trait Associations (2)

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

level of small proline-rich protein 3 in blood

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 0.24

p 4.0e-29

N 47,745

Large GWAS

European

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 A

OR 0.02

p 3.0e-8

N 723,266

Meta-analysisLarge GWAS

European

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ClinVar annotation

Pathogenic★★★★

56 submitters66 publications

Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Autosomal dominant nonsyndromic hearing loss 3A; Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A); Autosomal recessive nonsyndromic hearing loss 1B; GJB2-related disorder; Hearing impairment; Hearing loss; Hearing loss, autosomal recessive; Ichthyosis, hystrix-like, with hearing loss; Inborn genetic diseases; Knuckle pads, deafness AND leukonychia syndrome; Mutilating keratoderma (VOWNKL); Nonsyndromic Deafness; Nonsyndromic genetic hearing loss; Palmoplantar keratoderma-deafness syndrome; Rare genetic deafness; See cases

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About GJB2

This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]