rs80067372

This variant is located in the TNFSF12 gene.

GWAS Catalog Trait Associations (3)

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 A
OR 0.55
p
N 10,708
Large GWAS
European

blood protein amount

Emilsson V et al. Co-regulatory networks of human serum proteins link genetics to disease. Science (new York, N.y.) 361(6404):769-773 (2018)
Allele G
OR 0.76
p 9.0e-200
N 3,200
Large GWAS
European

platelet crit

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 7.0e-17
N 408,112
Large GWAS
European
Allele A
OR 0.02
p 8.0e-17
N 394,642
Large GWAS
European

ClinVar annotation

Benign☆☆☆
1 submitter1 publication

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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