rs8187735

This variant is located in the SLC18A3 gene.

GWAS Catalog Trait Associations (1)

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

Hodgkins lymphoma

Osman Y et al. Functional multigenic variations associated with hodgkin lymphoma. International Journal of Laboratory Hematology 43(6):1472-1482 (2021)
Allele A
OR
β 0.039
p 4.0e-11
N 97
Small GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

ClinVar annotation

Uncertain Significance★★★
4 submitters2 publications

Congenital myasthenic syndrome 21; not provided; Inborn genetic diseases

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About SLC18A3

This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]

View all SLC18A3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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