rs34762726

This variant is located in the BSN gene.

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GWAS Catalog Trait Associations (5)

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

interferon regulatory factor 9 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.15
p 1.0e-25
N 10,708
Large GWAS
European

smoking cessation

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele A
OR 0.01
p 2.0e-18
N 1,147,272
Large GWAS
European

Back pain

Bjornsdottir G et al. “Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.” Nature Communications 13(1):634 (2022)
Allele A
OR 0.96
p 1.0e-15
N 1,028,957
Large GWAS
European

insomnia

Watanabe K et al. “Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways.” Nature Genetics 54(8):1125-1132 (2022)
Allele A
OR 0.01
p 3.0e-8
N 2,365,010
Meta-analysisLarge GWAS
European
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ClinVar annotation

Benign
1 submitter

BSN-related disorder

View on ClinVar →

About BSN

Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008]

View all BSN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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