rs28459661

This variant is located in the PIGB gene.

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GWAS Catalog Trait Associations (1)

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

level of lymphocyte antigen 6D in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.04

p 3.0e-12

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

not provided; Developmental and epileptic encephalopathy, 80

View on ClinVar →

About PIGB

This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]

View all PIGB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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