rs563431181
This variant is located in the PXK gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
vitamin D deficiency
Hendi NN et al. “Rare-Variant Genome-Wide Association and Polygenic Score Assessment of Vitamin D Status in a Middle Eastern Population.” International Journal of Molecular Sciences 26(19) (2025)
Allele G
OR 6.64
p 9.0e-11
N 5,885
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
About PXK
This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
View all PXK variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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