rs13306575

This is a variant in the NCF2 gene that changes a arginine to an tryptophan.

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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

Yin X et al. “Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus.” Annals of the Rheumatic Diseases 80(5):632-640 (2021)
Allele A
OR 1.31
p 2.0e-14
N 208,370
Meta-analysisLarge GWAS
East Asian
Alarcón-Riquelme ME et al. “Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture.” Arthritis & Rheumatology (hoboken, N.j.) 68(4):932-43 (2016)
Allele A
OR 1.62
p 3.0e-8
N 3,710
Large GWAS
Hispanic or Latin American, Native American
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ClinVar annotation

Likely Benign★★★☆
1 submitter3 publications

Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2; not specified

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About NCF2

This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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