rs9439082

This is a upstream gene variant variant in the GJA9 gene.

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GWAS Catalog Trait Associations (1)

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

Kunitz-type protease inhibitor 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele A

OR —

β 0.350

p 1.0e-47

N 3,301

Large GWAS

European

About GJA9

Connexins, such as GJA9, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]

View all GJA9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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