rs2290846

This variant is located in the LRBA gene.

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GWAS Catalog Trait Associations (12)

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

gallstones

Fairfield CJ et al. “Genome-wide analysis identifies gallstone-susceptibility loci including genes regulating gastrointestinal motility.” Hepatology (baltimore, Md.) 75(5):1081-1094 (2022)
Allele A
OR 1.13
p 5.0e-46
N 550,437
Large GWAS
European

cholelithiasis

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.12
p 1.0e-36
N 665,111
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.13
p 4.0e-13
N 394,626
Large GWAS
European

alkaline phosphatase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 2.0e-28
N 394,642
Large GWAS
European
Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele A
OR 0.00
p 2.0e-26
N 437,438
Large GWAS
European
Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele A
OR 8.70
p 3.0e-18
N 390,964
Large GWAS
multi-ancestry

leukocyte quantity

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 1.0e-13
N 408,112
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.01
p 4.0e-10
N 504,825
Large GWAS
multi-ancestry

Cholecystitis

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.11
p 2.0e-12
N 641,364
Large GWAS
multi-ancestry

brain attribute

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele A
OR 6.66
p 3.0e-11
N 33,748
Large GWAS
European

blood urea nitrogen amount

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.01
p 5.0e-10
N 492,819
Large GWAS
multi-ancestry
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ClinVar annotation

Likely Benign★★★☆
7 submitters3 publications

not specified; Combined immunodeficiency due to LRBA deficiency; not provided

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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