rs71624119

This variant is located in the ANKRD55 gene.

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GWAS Catalog Trait Associations (2)

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

rheumatoid arthritis

Kim K et al. “High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.” Annals of the Rheumatic Diseases 74(3):e13 (2015)
Allele G
OR 1.22
p 3.0e-18
N 55,089
Large GWAS
multi-ancestry

multiple sclerosis

Beecham AH et al. “Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.” Nature Genetics 45(11):1353-60 (2013)
Allele G
OR 1.11
p 3.0e-13
N 38,589
Large GWAS
European
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Research that mentions this SNP (2)

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Disease‐Associated Single‐Nucleotide Polymorphisms From Noncoding Regions in Juvenile Idiopathic Arthritis Are Located Within or Adjacent to Functional Genomic Elements of Human Neutrophils and CD4+ T Cells
FunctionalKaiyu Jiang et al.(2015)· Arthritis &amp; Rheumatology

This functional study investigates disease-associated SNPs from non-coding genomic regions in juvenile idiopathic arthritis (JIA) by mapping enhancer-associated histone marks (H3K4me1 and H3K27ac) in human neutrophils and CD4+ T cells. The authors identified H3K4me1 and/or H3K27ac marks in 15 of 22 JIA risk regions in neutrophils and 18 of 22 regions in CD4+ T cells, and confirmed non-coding RNA transcripts at rs4705862 and rs6894249 loci in neutrophils, demonstrating that JIA-associated genetic risk resides largely within functional, non-coding regulatory elements.

Traits studied:Juvenile Idiopathic Arthritis (JIA)
PubMedDOIMetascience Observatory
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Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population
AssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)Spondyloarthropathies
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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