rs116287860

This is a intron variant variant in the GPLD1 gene.

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GWAS Catalog Trait Associations (1)

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

alkaline phosphatase measurement

Olafsson S et al. “Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.” Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 29(1):225-235 (2020)

Allele C

OR 0.06

p 1.0e-13

N 162,774

Large GWAS

European

About GPLD1

Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]

View all GPLD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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