rs17489891

This is a intron variant variant in the SLC18A1 gene.

GWAS Catalog Trait Associations (1)

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

chromogranin-A measurement

Allele C
OR 0.13
p 4.0e-48
N 47,745
Large GWAS
European

About SLC18A1

The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]

View all SLC18A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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