rs8048576

This variant is located in the ATP2C2 gene.

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GWAS Catalog Trait Associations (1)

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

chronic obstructive pulmonary disease, surfactant protein D measurement

Kim DK et al. “Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.” American Journal of Respiratory and Critical Care Medicine 186(12):1238-47 (2012)

Allele A

OR —

p 9.0e-13

N 1,951

Large GWAS

European

About ATP2C2

Enables P-type calcium transporter activity and P-type manganese transporter activity. Predicted to be involved in calcium ion transmembrane transport; intracellular calcium ion homeostasis; and manganese ion transport. Predicted to act upstream of or within mammary gland epithelium development; positive regulation of calcium ion import; and protein localization to plasma membrane. Predicted to be located in trans-Golgi network membrane. Predicted to be active in Golgi membrane; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all ATP2C2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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