rs34557412

This is a variant in the TNFRSF13B gene that changes a cysteine to an arginine.

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GWAS Catalog Trait Associations (53)

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

level of serum globulin type protein

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.38
p 8.0e-145
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry

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 G
OR 0.67
p 1.0e-130
N 47,745
Large GWAS
European

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 G
OR 0.64
p 2.0e-102
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 G
OR 0.60
p 4.0e-87
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 G
OR 0.23
p 2.0e-81
N 394,642
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 G
OR 0.54
p 2.0e-73
N 47,745
Large GWAS
European

platelet crit

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.19
p 2.0e-71
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.23
p 1.0e-63
N 408,112
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele G
OR 0.20
p 1.0e-19
N 164,339
Large GWAS
European

blood protein amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.26
p 2.0e-65
N 325,292
Major Consortium StudyLarge 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 G
OR 0.36
p 5.0e-26
N 47,745
Large GWAS
European

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 G
OR 0.52
p 1.0e-62
N 47,745
Large GWAS
European
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ClinVar annotation

Pathogenic★★★☆
47 submitters51 publications

Common variable immunodeficiency (CVID); Immune deficiency, familial variable; Immunodeficiency, common variable, 1; Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2 (IGAD2); Severe SARS-CoV-2 infection, susceptibility to; TNFRSF13B-related disorder; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency
FunctionalN=41Hong-Ying Wang et al.(2010)· Human Mutation

This paper describes the development of a custom 148-gene resequencing microarray chip (Hyper-IgM/CVID chip) for mutation screening in patients with antibody deficiency disorders. The authors identified disease-causing mutations in known genes (CD40LG, AICDA, IKBKG, TNFRSF13B) and discovered rare disease-associated variants in TRAF3IP2 (rs33980500:G>A with OR>2 and rs13190932:C>T with OR>2) in 41% of screened patients with Hyper-IgM or CVID.

Traits studied:Antibody deficiencyCommon Variable Immunodeficiency (CVID)Hyper-IgM syndrome
PubMedDOIMetascience Observatory

About TNFRSF13B

The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

View all TNFRSF13B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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