rs1225004

This is a intron variant variant in the CPNE4 gene.

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GWAS Catalog Trait Associations (2)

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

body mass index

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)

Allele C

OR 0.02

p 1.0e-18

N 342,566

Large GWAS

European

body fat percentage

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 0.01

p 6.0e-16

N 394,642

Large GWAS

European

About CPNE4

This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

View all CPNE4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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