rs11552708

This is a variant in the TNFSF13 gene that changes a glycine to an arginine.

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GWAS Catalog Trait Associations (5)

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

total blood protein measurement

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 0.05
p 3.0e-45
N 133,321
Large GWAS
East Asian

systolic blood pressure

Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.02
p 3.0e-10
N 1,212,859
Large GWAS
European

phospholipids:total lipids ratio, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 4.0e-10
N 136,016
Large GWAS
multi-ancestry

serum IgM amount

Yang M et al. “Genome-wide scan identifies variant in TNFSF13 associated with serum IgM in a healthy Chinese male population.” Plos One 7(10):e47990 (2012)
Allele G
OR —
p 4.0e-9
N 1,999
Large GWAS
East Asian
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ClinVar annotation

Benign★★★☆
4 submitters1 publication

not specified

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

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Genome-wide association study identifies TNFSF13 as a susceptibility gene for IgA in a South Chinese population in smokers
AssociationN=3,495Chen Yang et al.(2012)· Immunogenetics

Two-stage genome-wide association study in 3,495 healthy Chinese men identified TNFSF13 as a susceptibility locus for serum IgA levels. The lead variant rs3803800 showed significant association (P = 6.26×10⁻⁸ in stage 1, combined P = 2.97×10⁻⁷), with markedly stronger association in smokers (P = 3.96×10⁻⁷) compared to nonsmokers (P = 2.28×10⁻¹), suggesting smoking modulates the genetic effect on IgA levels.

Traits studied:Serum IgA level
PubMedDOIMetascience Observatory

About TNFSF13

The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]

View all TNFSF13 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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