rs374039502

This variant is located in the TNFSF13B gene.

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GWAS Catalog Trait Associations (29)

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

tumor necrosis factor ligand superfamily member 13B amount

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 0.67
p 6.0e-267
N 47,745
Large GWAS
European

tumor necrosis factor receptor superfamily member 13B amount

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 0.59
p 2.0e-207
N 47,745
Large GWAS
European

Fc receptor-like protein 2 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 0.33
p 2.0e-88
N 47,745
Large GWAS
European

B-cell receptor CD22 level

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 0.29
p 7.0e-50
N 47,745
Large GWAS
European

Fc receptor-like protein 1 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 0.27
p 3.0e-47
N 47,745
Large GWAS
European

total blood protein 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 0.10
p 4.0e-39
N 394,642
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 0.11
p 3.0e-30
N 448,242
Large GWAS
multi-ancestry

level of complement receptor type 2 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 A
OR 0.23
p 4.0e-34
N 47,745
Large GWAS
European

monocyte percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.08
p 4.0e-24
N 408,112
Large GWAS
European
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 0.07
p 5.0e-23
N 394,642
Large GWAS
European

low affinity immunoglobulin epsilon Fc receptor 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 0.17
p 3.0e-18
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus
AssociationN=373Sergey V. Kozyrev et al.(2007)· Arthritis &amp; Rheumatism

This study identified 2,530 genes with alternative polyadenylation quantitative trait loci (apaQTL) in 373 European individuals from the GEUVADIS dataset, discovering ~160,000 genetic variants affecting 3' UTR isoform expression. Notably, rs10954213 in IRF5 was confirmed to affect APA regulation in systemic lupus erythematosus (SLE) patients. apaQTLs showed significant enrichment in GWAS hits, particularly for immune disorders (OR=5.41) and neurological disorders (OR=4.32), suggesting that alternative polyadenylation is an important intermediate molecular phenotype linking genetic variation to complex disease susceptibility.

Traits studied:Alternative polyadenylation (molecular trait)Autism spectrum disorderImmune-related disordersLung carcinomaMultiple sclerosisNeurological disordersParkinson's diseaseSchizophreniaSpina bifidaSquamous cell lung carcinomaSystemic lupus erythematosus
PubMedDOIMetascience Observatory

About TNFSF13B

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]

View all TNFSF13B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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