rs11650008

This variant is located in the PIGW gene.

GWAS Catalog Trait Associations (4)

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

cholesteryl esters to total lipids in very small VLDL percentage

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 4.0e-11
N 450,015
Large GWAS
multi-ancestry

free cholesterol to total lipids in large LDL percentage

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 1.0e-10
N 450,015
Large GWAS
multi-ancestry

free cholesterol to total lipids in medium LDL percentage

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 1.0e-10
N 450,015
Large GWAS
multi-ancestry

bipolar I disorder

Allele C
OR 1.07
p 5.0e-8
N 475,038
Large GWAS
European

ClinVar annotation

Benign☆☆☆
1 submitter
View on ClinVar →

About PIGW

The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]

View all PIGW variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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