rs2242944

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GWAS Catalog Trait Associations (1)

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

vasculitis

Ortiz-Fernández L et al. “Identification of new risk loci shared across systemic vasculitides points towards potential target genes for drug repurposing.” Annals of the Rheumatic Diseases 82(6):837-847 (2023)
Allele A
OR 0.75
p 1.0e-10
N 38,262
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Is there a higher genetic load of susceptibility loci in familial ankylosing spondylitis?
AssociationN=502Joshi R. et al.(2012)· Arthritis Care &amp; Research

This association study compared genetic susceptibility loci frequencies between 312 familial and 190 sporadic ankylosing spondylitis (AS) cases. HLA-B27 was significantly more prevalent in familial cases (OR: 5.41, p=8.4×10⁻⁸), while non-MHC susceptibility variants in IL23R, IL1R2, ANTXR2, ERAP1, and intergenic regions on chromosomes 2p15 and 21q22 showed no significant differences between familial and sporadic cases.

Traits studied:Ankylosing spondylitisFamilial aggregation of AS
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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