rs78275727
This is a intron variant variant in the COP1 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.
appendicular lean mass
Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele A
OR 0.02
p 3.0e-13
N 450,243
Major Consortium StudyLarge GWAS
European
body height
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.01
p 4.0e-11
N 405,540
Large GWAS
European
lean body mass
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele A
OR 0.01
p 2.0e-9
N 337,739
Large GWAS
European
About COP1
Enables ubiquitin protein ligase activity. Involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process; proteasome-mediated ubiquitin-dependent protein catabolic process; and response to ionizing radiation. Part of Cul4A-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]
View all COP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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