rs57659670

This variant is located in the DUOX2 gene.

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GWAS Catalog Trait Associations (4)

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

ferritin measurement

Bell S et al. “A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.” Communications Biology 4(1):156 (2021)
Allele C
OR 0.14
p 1.0e-113
N 246,139
Meta-analysisLarge GWAS
European

total iron binding capacity

Bell S et al. “A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.” Communications Biology 4(1):156 (2021)
Allele C
OR 0.08
p 4.0e-19
N 135,430
Meta-analysisLarge GWAS
European

transferrin saturation measurement

Bell S et al. “A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.” Communications Biology 4(1):156 (2021)
Allele C
OR 0.06
p 6.0e-12
N 131,471
Meta-analysisLarge GWAS
European

serum iron amount

Bell S et al. “A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.” Communications Biology 4(1):156 (2021)
Allele C
OR 0.04
p 1.0e-8
N 163,511
Meta-analysisLarge GWAS
European
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ClinVar annotation

Benign★★★☆
6 submitters3 publications

not specified; Thyroid dyshormonogenesis 6; not provided

View on ClinVar →

About DUOX2

The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008]

View all DUOX2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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