rs559972

This is a intron variant variant in the TAOK1 gene.

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GWAS Catalog Trait Associations (2)

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

platelet count

Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)
Allele T
OR 3.26
p 3.0e-18
N 48,666
Large GWAS
European

platelet volume

Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)
Allele T
OR 0.13
p 3.0e-12
N 55,914
Large GWAS
East Asian
Sun P et al. “An Asian-specific MPL genetic variant alters JAK-STAT signaling and influences platelet count in the population.” Human Molecular Genetics 30(9):836-842 (2021)
Allele T
OR 0.30
p 2.0e-8
N 5,257
Large GWAS
East Asian
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Research that mentions this SNP (1)

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A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects
AssociationN=13,582Khader Shameer et al.(2014)· Human Genetics

A genome-wide association study (GWAS) of platelet count (PLT) and mean platelet volume (MPV) in 13,582 and 6,291 participants respectively from the eMERGE network identified 5 chromosomal regions associated with PLT and 8 with MPV at genome-wide significance (P<5E-8). Key findings include variants in ARHGEF3 (rs1354034, P=6E-24 for PLT; P=9E-34 for MPV), SH2B3 (rs3184504, P=5E-12), and multiple other loci. The study replicated 20 SNPs for PLT and 22 for MPV from prior meta-analyses and demonstrated pleiotropic effects with myocardial infarction, autoimmune, and hematologic disorders through phenome-wide association study (PheWAS).

Traits studied:Autoimmune disordersBlood pressureEosinophil countHematologic disordersMean platelet volume (MPV)Myocardial infarctionPlatelet count (PLT)Type 1 diabetes
PubMedDOIMetascience Observatory

About TAOK1

Enables alpha-tubulin binding activity; beta-tubulin binding activity; and kinase activity. Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; negative regulation of microtubule depolymerization; and positive regulation of MAPK cascade. Located in several cellular components, including microtubule cytoskeleton; nuclear body; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all TAOK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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