rs11737450

This variant is located in the LRBA gene.

GWAS Catalog Trait Associations (1)

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

hip geometry

Allele T
OR 0.06
p 8.0e-16
N 43,485
Large GWAS
multi-ancestry

ClinVar annotation

Benign★★★
3 submitters1 publication

not provided; not specified

View on ClinVar →

About LRBA

The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

View all LRBA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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