rs77711855

This variant is located in the TNFSF12 gene.

GWAS Catalog Trait Associations (5)

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

tumor necrosis factor ligand superfamily member 12 amount

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.59
p 2.0e-178
N 10,708
Large GWAS
European

blood protein amount

Allele T
OR 0.81
p 9.0e-159
N 5,365
Large GWAS
European

CD5 antigen-like measurement

Allele T
OR 0.06
p 3.0e-14
N 47,745
Large GWAS
European

immunoglobulin J chain measurement

Allele T
OR 0.07
p 5.0e-14
N 47,745
Large GWAS
European

B-cell receptor CD22 level

Allele T
OR 0.06
p 2.0e-12
N 47,745
Large GWAS
European

ClinVar annotation

Benign★★★
4 submitters2 publications

Common variable immunodeficiency; not provided; not specified

View on ClinVar →

About TNFSF12

The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]

View all TNFSF12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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