rs2251844

This is a intron variant variant in the PPIP5K1 gene.

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GWAS Catalog Trait Associations (1)

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

cancer biomarker measurement

He M et al. “A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk.” Gut 63(1):143-51 (2014)

Allele C

OR 0.09

p 1.0e-14

N 3,451

Large GWAS

East Asian

About PPIP5K1

This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]

View all PPIP5K1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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