rs4326844

This variant is located in the COPZ1 gene.

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GWAS Catalog Trait Associations (5)

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

level of long-chain fatty acid transport protein 4 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 G
OR 0.04
p 9.0e-13
N 47,745
Large GWAS
European

level of nuclear factor of activated T-cells 5 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 G
OR 0.04
p 2.0e-12
N 47,745
Large GWAS
European

level of 5-azacytidine-induced protein 2 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 G
OR 0.04
p 3.0e-12
N 47,745
Large GWAS
European

platelet count

Li J et al. “GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.” Human Molecular Genetics 22(7):1457-64 (2013)
Allele A
OR 8.68
p 5.0e-8
N 14,177
Large GWAS
multi-ancestry

About COPZ1

This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

View all COPZ1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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