rs9836291

This is a intron variant variant in the BSN gene.

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GWAS Catalog Trait Associations (3)

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

reticulocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.04
p 3.0e-57
N 408,112
Large GWAS
European

reticulocyte amount

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 2.0e-33
N 408,112
Large GWAS
European

substance-related disorder

Lai D et al. “Genome-wide meta-analyses of cross substance use disorders in diverse populations.” Molecular Psychiatry 31(3):1619-1633 (2026)
Allele A
OR 5.71
p 1.0e-8
N 1,699,295
Large GWAS
multi-ancestry

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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