rs187256434

This is a regulatory region variant variant in the TNFSF13 gene.

GWAS Catalog Trait Associations (3)

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

total blood protein measurement

Allele T
OR 0.16
p 5.0e-28
N 394,642
Large GWAS
European

Fc receptor-like protein 5 measurement

Allele T
OR 0.24
p 1.0e-13
N 47,745
Large GWAS
European

serum immunoglobulin amount

Jonsson S et al. Identification of sequence variants influencing immunoglobulin levels. Nature Genetics 49(8):1182-1191 (2017)
Allele T
OR 0.33
p 1.0e-9
N 14,183
Large GWAS
European

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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