rs1275085

This variant is located in the SCN3B gene.

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GWAS Catalog Trait Associations (3)

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

level of sodium channel subunit beta-3 in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele A
OR 1.02
p 2.0e-20
N 466
Small GWAS
African American or Afro-Caribbean

serine/threonine-protein kinase 17B measurement

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele A
OR 0.86
p 2.0e-9
N 199
Small GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter2 publications

not specified

View on ClinVar →

About SCN3B

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

View all SCN3B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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