rs112519623

This variant is located in the SLC39A8 gene.

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GWAS Catalog Trait Associations (4)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.03
p 2.0e-10
N 1,122,049
Large GWAS
European

osteoarthritis, hip, body mass index

Zhang L et al. “A sex- and site-specific relationship between body mass index and osteoarthritis: evidence from observational and genetic analyses.” Osteoarthritis and Cartilage 31(6):819-828 (2023)
Allele A
OR —
p 2.0e-10
N 1,160,222
Large GWAS
European

amygdala volume

Mufford MS et al. “The Genetic Architecture of Amygdala Nuclei.” Biological Psychiatry 95(1):72-84 (2024)
Allele A
OR 1.79
p 5.0e-10
N 36,352
Large GWAS
multi-ancestry

diastolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele A
OR 0.34
p 3.0e-8
N 1,028,980
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
2 submitters2 publications
View on ClinVar →

About SLC39A8

This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]

View all SLC39A8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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