rs2254546

This is a intergenic variant variant.

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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

Khunsriraksakul C et al. “Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus.” Nature Communications 14(1):668 (2023)
Allele A
OR 0.12
p 4.0e-28
N 718,496
Large GWAS
multi-ancestry
Yang W et al. “Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.” American Journal of Human Genetics 92(1):41-51 (2013)
Allele A
OR 1.49
p 2.0e-13
N 5,050
Meta-analysis
multi-ancestry
Zhang YM et al. “Shared genetic study gives insights into the shared and distinct pathogenic immunity components of IgA nephropathy and SLE.” Molecular Genetics and Genomics : Mgg 296(4):1017-1026 (2021)
Allele A
OR 0.42
p 5.0e-20
N 4,049
Large GWAS
East Asian

mucocutaneous lymph node syndrome

Onouchi Y et al. “A genome-wide association study identifies three new risk loci for Kawasaki disease.” Nature Genetics 44(5):517-21 (2012)
Allele G
OR 1.85
p 8.0e-21
N 3,807
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Combined analysis of genome-wide-linked susceptibility loci to Kawasaki disease in Han Chinese
AssociationN=1,173Yuanlong Yan et al.(2013)· Human Genetics

Association study of 6 GWAS-identified susceptibility SNPs with Kawasaki disease in 358 Han Chinese patients and 815 controls. Risk alleles of rs1801274 (FCGR2A, OR=1.33) and rs2254546 (BLK, OR=1.44) showed significant associations. Meta-analyses confirmed significant effects for rs113420705 (CASP3, OR=1.40), rs2857151 (HLA, OR=1.41), and rs4813003 (CD40, OR=1.37). A 3-locus combination (rs113420705 + rs2857151 + rs4813003) showed the strongest association (OR=2.15, P=0.0003), suggesting additive genetic effects on disease susceptibility and coronary artery lesion formation.

Traits studied:Coronary artery lesionsKawasaki disease
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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