rs6667260

This variant is located in the ITPKB gene.

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GWAS Catalog Trait Associations (2)

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

cystatin-D measurement

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 0.03

p 4.0e-15

N 47,745

Large GWAS

European

calcium measurement

Young WJ et al. “Genetically Determined Serum Calcium Levels and Markers of Ventricular Repolarization: A Mendelian Randomization Study in the UK Biobank.” Circulation. Genomic and Precision Medicine 14(3):e003231 (2021)

Allele C

OR 0.00

p 1.0e-13

N 305,349

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Benign★★★☆

7 submitters4 publications

Myeloproliferative neoplasm, unclassifiable; not specified; ITPKB-related disorder

View on ClinVar →

About ITPKB

The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008]