rs4653767

This is a intron variant variant 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.

Parkinson disease

Kim JJ et al. “Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.” Nature Genetics 56(1):27-36 (2024)
Allele T
OR —
p 3.0e-24
N 2,525,730
Meta-analysisLarge GWAS
multi-ancestry
Nalls MA et al. “Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.” The Lancet. Neurology 18(12):1091-1102 (2019)
Allele T
OR 0.08
p 1.0e-15
N 482,730
Meta-analysisLarge GWAS
European
Chang D et al. “A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.” Nature Genetics 49(10):1511-1516 (2017)
Allele T
OR 1.09
p 2.0e-11
N 417,508
Meta-analysisLarge GWAS
European

calcium measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.02
p 8.0e-12
N 399,133
Large GWAS
multi-ancestry

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]

View all ITPKB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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