rs704840

This is a intergenic variant variant in the TNFSF4 gene.

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GWAS Catalog Trait Associations (1)

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

systemic lupus erythematosus

Khunsriraksakul C et al. “Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.” Nature Communications 14(1):668 (2023)
Allele T
OR 0.12
p 1.0e-46
N 718,496
Large GWAS
multi-ancestry
Bentham J et al. “Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.” Nature Genetics 47(12):1457-1464 (2015)
Allele T
OR 1.22
p 3.0e-19
N 14,267
Large GWAS
European
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Research that mentions this SNP (1)

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Association and cumulative effects of GWAS‐identified genetic variants for nonsyndromic orofacial clefts in a Chinese population
AssociationN=799Yongchu Pan et al.(2013)· Environmental and Molecular Mutagenesis

A case-control association study of 312 NMOSD patients and 487 healthy controls from a Han Chinese population found that TNFSF4 SNPs rs844648 and rs704840 were significantly associated with increased risk of neuromyelitis optica spectrum disorders (NMOSD), with rs844648 showing OR=1.30 (P=0.011) and rs704840 showing OR=1.27 (P=0.023) under the allelic model. The haplotype Ars844648Grs704840 was associated with increased risk (OR=1.27, P=0.026) while Grs844648Trs704840 was protective (OR=0.77, P=0.01).

Traits studied:Neuromyelitis optica spectrum disorders (NMOSD)
PubMedDOIMetascience Observatory

About TNFSF4

This gene encodes a cytokine of the tumor necrosis factor (TNF) ligand family. The encoded protein functions in T cell antigen-presenting cell (APC) interactions and mediates adhesion of activated T cells to endothelial cells. Polymorphisms in this gene have been associated with Sjogren's syndrome and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

View all TNFSF4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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