rs1150754

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

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GWAS Catalog Trait Associations (4)

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

systemic lupus erythematosus

Chung SA et al. “Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.” Plos Genetics 7(3):e1001323 (2011)
Allele A
OR 2.21
p 6.0e-29
N 6,530
Large GWAS
European

BMI-adjusted waist-hip ratio

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele T
OR 0.03
p 9.0e-16
N 186,825
Major Consortium StudyLarge GWAS
European

schizophrenia

Ikeda M et al. “Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.” Schizophrenia Bulletin 45(4):824-834 (2019)
Allele C
OR 1.12
p 3.0e-12
N 122,624
Large GWAS
multi-ancestry

myeloperoxidase measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele T
OR —
β 0.064
p 7.0e-9
N 21,758
Large GWAS
European

About TNXB

This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all TNXB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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