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.
GWAS Catalog Trait Associations (22)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
sex hormone-binding globulin measurement
level of serum globulin type protein
total blood protein measurement
testosterone measurement
blood protein amount
marginal zone B- and B1-cell-specific protein measurement
Fc receptor-like protein 5 measurement
high density lipoprotein cholesterol measurement
level of lymphocyte antigen 96 in blood
interleukin-5 receptor subunit alpha measurement
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Genome-wide association study identifies TNFSF13 as a susceptibility gene for IgA in a South Chinese population in smokersAssociationN=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.
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…