rs60712451

This is a intron variant variant in the SLC39A14 gene.

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GWAS Catalog Trait Associations (1)

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

amygdala volume

Ji Y et al. “Cross-ancestry and sex-stratified genome-wide association analyses of amygdala and subnucleus volumes.” Nature Genetics 57(4):839-850 (2025)

Allele G

OR 0.03

p 2.0e-8

N 42,397

Large GWAS

multi-ancestry

About SLC39A14

This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017]

View all SLC39A14 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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