rs7282490

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GWAS Catalog Trait Associations (4)

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

inflammatory bowel disease

Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele G
OR 1.10
p 2.0e-26
N 34,366
Large GWAS
European

Crohn's disease

Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele G
OR 1.13
p 6.0e-23
N 20,883
Large GWAS
multi-ancestry

ankylosing spondylitis

Cortes A et al. “Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.” Nature Genetics 45(7):730-8 (2013)
Allele G
OR 1.11
p 6.0e-9
N 25,764
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Genetic Dissection of Acute Anterior Uveitis Reveals Similarities and Differences in Associations Observed With Ankylosing Spondylitis
AssociationN=14,050Robinson PC et al.(2015)· Arthritis &amp; Rheumatology

Genetic dissection of acute anterior uveitis (AAU) using high-density Immunochip genotyping in 1,711 AAU cases and 10,000 controls identifies HLA-B27 tag SNP rs116488202 (OR=16.8, P<1×10⁻³⁰⁰) as the strongest association, and three genome-wide significant non-MHC loci (IL23R, chromosome 2p15 intergenic region, and ERAP1) shared with ankylosing spondylitis. Five additional suggestive loci including IL10-IL19, IL18R1-IL1R1, IL6R, KIF21B, and EYS are identified, with shared genetic pathways with inflammatory bowel disease suggesting common etiologic mechanisms.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)AsthmaCeliac diseaseInflammatory bowel diseaseRetinitis pigmentosaSarcoidosisStatin-induced myopathy
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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