rs13072552

This is a intron variant variant in the CP gene.

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GWAS Catalog Trait Associations (1)

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

serum ceruloplasmin amount

Tang WH et al. “Clinical and genetic association of serum ceruloplasmin with cardiovascular risk.” Arteriosclerosis, Thrombosis, and Vascular Biology 32(2):516-22 (2012)

Allele T

OR 1.50

p 2.0e-11

N 2,647

Large GWAS

European

About CP

The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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