rs2310173

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GWAS Catalog Trait Associations (1)

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

ulcerative colitis

Anderson CA et al. “Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.” Nature Genetics 43(3):246-52 (2011)
Allele T
OR 1.09
p 3.0e-12
N 26,405
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (2)

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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
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ANTXR2 and IL-1R2 polymorphisms are not associated with ankylosing spondylitis in Chinese Han population
AssociationN=400Chao Chen et al.(2012)· Rheumatology International

This replication study investigated the association of ANTXR2 (rs4333130) and IL-1R2 (rs2310173) polymorphisms with ankylosing spondylitis in a Chinese Han population of 200 cases and 200 controls. Unlike previous findings in Caucasian populations, no significant associations were observed for either variant with AS (rs4333130: p=0.1914, OR=0.713; rs2310173: p=0.0981, OR=0.788), suggesting ethnic genetic heterogeneity in AS susceptibility.

Traits studied:Ankylosing spondylitis
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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