rs72823592
This is a coding sequence variant variant in the COPZ2 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of neural cell adhesion molecule 1 in blood serum
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 3.0e-12
N 47,745
Large GWAS
European
epilepsy
Steffens M et al. “Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.” Human Molecular Genetics 21(24):5359-72 (2012)
Allele G
OR 1.30
p 9.0e-9
N 3,988
Large GWAS
European
BMI-adjusted hip circumference
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 1.0e-8
N 186,825
Major Consortium StudyLarge GWAS
European
About COPZ2
This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. [provided by RefSeq, Feb 2014]
View all COPZ2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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