rs61754636

This is a protein-altering variant in the GPLD1 gene.

GWAS Catalog Trait Associations (2)

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

alkaline phosphatase measurement

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.31
p 9.0e-52
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry

level of neuronal calcium sensor 1 in blood

Allele T
OR 0.46
p 1.0e-30
N 47,745
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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