rs17849502

This is a variant in the NCF2 gene that changes a histidine to an glutamine.

▶

GWAS Catalog Trait Associations (7)

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

sialoadhesin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.10
p 7.0e-18
N 47,745
Large GWAS
European

systemic lupus erythematosus

Leffers HCB et al. “Established risk loci for systemic lupus erythematosus at NCF2, STAT4, TNPO3, IRF5 and ITGAM associate with distinct clinical manifestations: A Danish genome-wide association study.” Joint Bone Spine 89(4):105357 (2022)
Allele T
OR 2.62
p 3.0e-17
N 90,126
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.79
p 2.0e-8
N 659,165
Large GWAS
multi-ancestry

celiac disease

Ricaño-Ponce I et al. “Immunochip meta-analysis in European and Argentinian populations identifies two novel genetic loci associated with celiac disease.” European Journal of Human Genetics : Ejhg 28(3):313-323 (2020)
Allele T
OR 1.43
p 2.0e-16
N 27,774
Meta-analysisLarge GWAS
multi-ancestry

level of bone marrow stromal antigen 2 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.10
p 8.0e-16
N 47,745
Large GWAS
European

systemic scleroderma, rheumatoid arthritis, myositis, systemic lupus erythematosus

Acosta-Herrera M et al. “Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.” Annals of the Rheumatic Diseases 78(3):311-319 (2019)
Allele T
OR 1.36
p 4.0e-15
N 31,408
Meta-analysisLarge GWAS
European

lymphocyte activation gene 3 protein level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.08
p 1.0e-11
N 47,745
Large GWAS
European

X-12127 measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.15
p 1.0e-10
N 14,296
Large GWAS
European
▶

ClinVar annotation

Likely 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]

View all NCF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…