rs3803800

This is a variant in the TNFSF13 gene that changes a asparagine to an serine.

GWAS Catalog Trait Associations (22)

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

sex hormone-binding globulin measurement

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 0.15
p
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry

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 A
OR 0.06
p 7.0e-96
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry

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 G
OR 0.05
p 9.0e-82
N 448,242
Large GWAS
multi-ancestry
Allele G
OR 0.04
p 1.0e-53
N 394,642
Large GWAS
European
Allele G
OR 0.06
p 4.0e-15
N 38,000
Large GWAS
South Asian

testosterone measurement

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 0.05
p 6.0e-59
N 322,594
Major Consortium StudyLarge GWAS
multi-ancestry

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 0.04
p 2.0e-47
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry

marginal zone B- and B1-cell-specific protein measurement

Allele G
OR 0.08
p 3.0e-34
N 47,745
Large GWAS
European

Fc receptor-like protein 5 measurement

Allele G
OR 0.06
p 2.0e-29
N 47,745
Large GWAS
European

high density lipoprotein cholesterol measurement

Allele A
OR 0.02
p 3.0e-29
N 928,679
Large GWAS
multi-ancestry
Allele A
OR 0.02
p 4.0e-18
N 1,320,016
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 0.02
p 7.0e-20
N 390,103
Large GWAS
multi-ancestry
Koskeridis F et al. Pleiotropic genetic architecture and novel loci for C-reactive protein levels. Nature Communications 13(1):6939 (2022)
Allele A
OR 0.02
p 1.0e-8
N 361,194
Large GWAS
European
Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 2.0e-14
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry

level of lymphocyte antigen 96 in blood

Allele G
OR 0.06
p 9.0e-23
N 47,745
Large GWAS
European

interleukin-5 receptor subunit alpha measurement

Allele G
OR 0.06
p 1.0e-21
N 47,745
Large GWAS
European

ClinVar annotation

Benign★★★
5 submitters2 publications

not specified

View on ClinVar →

Research that mentions this SNP (1)

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

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…