rs2272662

This variant is located in the SLC39A4 gene.

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GWAS Catalog Trait Associations (7)

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

alkaline phosphatase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.03
p 1.0e-70
N 394,642
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.04
p 1.0e-50
N 463,178
Large GWAS
multi-ancestry
Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele C
OR 0.00
p 6.0e-70
N 437,438
Large GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.04
p 4.0e-52
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry

histidine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 1.0e-59
N 450,015
Large GWAS
multi-ancestry
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele C
OR 0.04
p 6.0e-17
N 136,016
Large GWAS
multi-ancestry
Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)
Allele C
OR 0.03
p 2.0e-13
N 117,944
Large GWAS
European
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.03
p 2.0e-12
N 114,897
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele C
OR 0.03
p 3.0e-10
N 88,197
Large GWAS
European

level of zinc transporter ZIP5 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.05
p 8.0e-22
N 47,745
Large GWAS
European

urinary metabolite measurement

Sadler MC et al. “Genetic determinants of zinc homeostasis and its role in cardiometabolic diseases.” Plos Genetics 21(12):e1011928 (2025)
Allele T
OR —
β 0.084
p 4.0e-17
N 10,103
Large GWAS
European

level of carboxypeptidase Q in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.04
p 1.0e-16
N 47,745
Large GWAS
European

sex hormone-binding globulin measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.02
p 2.0e-9
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
11 submitters3 publications

Hereditary acrodermatitis enteropathica; not specified; not provided

View on ClinVar →

About SLC39A4

This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

View all SLC39A4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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