rs2230365

This is a synonymous variant in the NFKBIL1 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (5)

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

killer cell immunoglobulin-like receptor 2DL2 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 2.0e-48
N 47,745
Large GWAS
European

monocyte count

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele C
OR —
p 7.0e-16
N 234,690
Large GWAS
European

BMI-adjusted hip circumference

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 1.0e-12
N 219,872
Major Consortium StudyLarge GWAS
European

grip strength measurement

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele C
OR 0.01
p 1.0e-9
N 404,112
Large GWAS
European
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ClinVar annotation

Benign
1 submitter

NFKBIL1-related disorder

View on ClinVar →
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Research that mentions this SNP (1)

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Identification of candidate loci at 6p21 and 21q22 in a genome‐wide association study of cardiac manifestations of neonatal lupus
AssociationN=3,467Robert M. Clancy et al.(2010)· Arthritis &amp; Rheumatism

Genome-wide association study of 116 children with cardiac neonatal lupus (116 cases, 3,351 controls) identified 17 significant SNPs in the HLA region at 6p21, with the strongest association at rs3099844 (OR 3.34, P=4.52×10⁻¹⁰) near the MICB gene. Non-HLA associations were found at rs743446 (21q22, OR 2.40, P=5.45×10⁻⁶), rs2403106 (12q21, OR 2.48, P=2.62×10⁻⁶), rs1391511 (10p15, OR 1.84, P=6.6×10⁻⁶), and rs1890645 (1q31, OR 2.98, P=3.52×10⁻⁶). Results suggest genetic polymorphisms in inflammatory and apoptotic pathways contribute to cardiac injury in fetuses exposed to maternal anti-Ro/SSA antibodies.

Traits studied:Atrioventricular blockCardiac neonatal lupusCardiomyopathyCongenital heart blockNeonatal lupus erythematosus
PubMedDOIMetascience Observatory

About NFKBIL1

This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]

View all NFKBIL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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