rs746203

This variant is located in the PIP4K2A gene.

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GWAS Catalog Trait Associations (1)

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

body height

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.01
p 6.0e-12
N 165,056
Large GWAS
East Asian
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Research that mentions this SNP (2)

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BMI1 enhancer polymorphism underlies chromosome 10p12.31 association with childhood acute lymphoblastic leukemia
AssociationN=15,268Adam J. de Smith et al.(2018)· International Journal of Cancer

Fine-mapping study of childhood acute lymphoblastic leukemia (ALL) associations at chromosome 10p12 in Latino and non-Latino white populations identified independent effects at BMI1 and PIP4K2A loci. rs11591377 (P=2.1×10⁻¹⁰, OR=1.32) in an BMI1 hematopoietic stem cell enhancer shows preferential binding of risk allele to MYBL2 and p300 transcription factors. rs4748812 (P=1.3×10⁻¹⁵, OR=1.36) at PIP4K2A alters RUNX1 binding motif and loops to PIP4K2A promoter.

Traits studied:Childhood acute lymphoblastic leukemiaHigh hyperdiploid ALL
PubMedDOIMetascience Observatory
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Analysis of genetic variations in the RGS9 gene and antipsychotic‐induced tardive dyskinesia in schizophrenia
ReviewYing‐Jay Liou et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This is a comprehensive literature review of candidate genes and their single nucleotide variants associated with antipsychotic-induced tardive dyskinesia in schizophrenia patients. The review examined genes involved in dopamine system (DRD1, DRD2, DRD3), catecholamine metabolism (COMT), serotonin system (HTR2A, HTR2C), and other pharmacodynamic and pharmacokinetic pathways. Timely identification of genetic variants in these genes could contribute to developing diagnostic tests and selecting safer antipsychotic therapy.

Traits studied:Antipsychotic-induced movement disordersDrug-induced tardive dyskinesiaSchizophreniaTardive dyskinesia
PubMedDOIMetascience Observatory

About PIP4K2A

Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]

View all PIP4K2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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