rs12894780

This is a regulatory region variant variant in the ITPK1 gene.

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GWAS Catalog Trait Associations (5)

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

FEV/FVC ratio

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 3.0e-19
N 394,642
Large GWAS
European

forced expiratory volume

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 0.02
p 2.0e-17
N 394,642
Large GWAS
European
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 C
OR 0.02
p 2.0e-15
N 373,397
Large GWAS
European

health trait

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 T
OR 0.01
p 1.0e-9
N 405,979
Large GWAS
European

smoking status measurement, chronic obstructive pulmonary disease

Kim W et al. “Genome-Wide Gene-by-Smoking Interaction Study of Chronic Obstructive Pulmonary Disease.” American Journal of Epidemiology 190(5):875-885 (2021)
Allele C
OR —
p 1.0e-8
N 200,766
Large GWAS
European

About ITPK1

This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]

View all ITPK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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