rs571370281

This is a protein-altering variant in the PDCD6 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 G
OR 1.92
p 6.0e-10
N 78,848
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 G
OR 1.29
p 1.0e-13
N 102,133
Large GWAS
European

About PDCD6

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]

View all PDCD6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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