rs146419288

This is a intron variant variant in the PI4K2A gene.

GWAS Catalog Trait Associations (1)

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

level of cartilage acidic protein 1 in blood

Allele C
OR 0.20
p 2.0e-29
N 47,745
Large GWAS
European

About PI4K2A

Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]

View all PI4K2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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