rs184962666

This is a upstream gene variant variant in the SLC38A3 gene.

GWAS Catalog Trait Associations (1)

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

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 0.25
p 2.0e-9
N 408,112
Large GWAS
European

About SLC38A3

Enables L-amino acid transmembrane transporter activity. Involved in carboxylic acid transport. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 102. [provided by Alliance of Genome Resources, Jul 2025]

View all SLC38A3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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