rs17849501

This is a synonymous variant in the NCF2 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

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

systemic lupus erythematosus

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 2.10

p 3.0e-88

N 14,267

Large GWAS

European

autoimmune disorder of musculoskeletal system

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele C

OR 0.47

p 7.0e-13

N 632,370

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

8 submitters2 publications

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

View on ClinVar →

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]