rs944722

This is a intron variant variant in the NOS2 gene.

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GWAS Catalog Trait Associations (1)

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

nitric oxide exhalation measurement

van der Valk RJ et al. “Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.” The Journal of Allergy and Clinical Immunology 134(1):46-55 (2014)
Allele C
OR 0.07
p 1.0e-9
N 8,858
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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NOS2A, TLR4, and IFNGR1 interactions influence pulmonary tuberculosis susceptibility in African-Americans
AssociationN=766Velez DR et al.(2009)· Human Genetics

A case-control association study in African-Americans (279 cases, 166 controls) and Caucasians (198 cases, 123 controls) examined 39 SNPs in the NOS2A gene for pulmonary tuberculosis susceptibility. Ten NOS2A SNPs were associated with TB in African-Americans, with the strongest associations at rs2274894 (OR=1.84, 95% CI 1.23-2.77, p=0.003) and rs7215373 (OR=1.67, 95% CI 1.17-2.37, p=0.004). Strong gene-gene interactions were observed between NOS2A SNPs and variants in IFNGR1 and TLR4 genes, suggesting synergistic effects on TB susceptibility.

Traits studied:Pulmonary TBTuberculosis
PubMedDOIMetascience Observatory

About NOS2

Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

View all NOS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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