rs3024505

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (5)

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

ulcerative colitis

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 A
OR 1.25
p 5.0e-43
N 27,432
Large GWAS
multi-ancestry
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 A
OR 1.25
p 6.0e-17
N 26,405
Meta-analysisLarge GWAS
European
McGovern DP et al. “Genome-wide association identifies multiple ulcerative colitis susceptibility loci.” Nature Genetics 42(4):332-7 (2010)
Allele A
OR 1.28
p 1.0e-8
N 9,484
Large GWAS
European
Franke A et al. “Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.” Nature Genetics 40(11):1319-23 (2008)
Allele A
OR 1.46
p 1.0e-12
N 1,944
Large GWAS
European

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 A
OR 1.21
p 7.0e-42
N 34,366
Large GWAS
European
Wu Y et al. “GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression.” Nature Communications 12(1):1146 (2021)
Allele A
OR 0.84
p 9.0e-15
N 456,327
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 T
OR 1.18
p 4.0e-25
N 20,883
Large GWAS
multi-ancestry
Franke A et al. “Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.” Nature Genetics 42(12):1118-25 (2010)
Allele T
OR 1.12
p 2.0e-14
N 21,389
Meta-analysisLarge GWAS
European

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 G
OR 0.09
p 2.0e-18
N 718,496
Large GWAS
multi-ancestry
Bentham J et al. “Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.” Nature Genetics 47(12):1457-1464 (2015)
Allele G
OR 1.17
p 5.0e-9
N 14,267
Large GWAS
European
Gateva V et al. “A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.” Nature Genetics 41(11):1228-33 (2009)
Allele G
OR 1.19
p 4.0e-8
N 9,169
Large GWAS
European

type 1 diabetes mellitus

Plagnol V et al. “Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.” Plos Genetics 7(8):e1002216 (2011)
Allele G
OR 1.20
p 5.0e-10
N 19,102
Large GWAS
European
Crouch DJM et al. “Bayesian Effect Size Ranking to Prioritise Genetic Risk Variants in Common Diseases for Follow-Up Studies.” Genetic Epidemiology 49(1):e22608 (2025)
Allele G
OR 0.88
p 2.0e-9
N 173,981
Large GWAS
European
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Research that mentions this SNP (4)

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Pilot screening study of targeted genetic polymorphisms for association with seasonal influenza hospital admission
AssociationN=14,471Tonia C. Carter et al.(2018)· Journal of Medical Virology

This pilot screening study evaluated 32 SNPs in viral immune response genes for association with hospitalized seasonal influenza in adults of European ancestry using a discovery group (26 cases, 993 controls) and two validation groups (84 cases, 4,076 controls; 128 cases, 9,187 controls). The study failed to replicate the previously reported association between IFITM3 rs12252 and hospitalized influenza (P > 0.05), and a preliminary finding of association with SLFN13 rs8072510 (P = 0.0099 in discovery group) was not confirmed in validation groups.

Traits studied:Hospitalized seasonal influenzaInfluenza hospital admissionSevere influenza infection
PubMedDOIMetascience Observatory
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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
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Nucleotide variation in IL‐10 and IL‐12 and their receptors and cervical and vulvar cancer risk: A hybrid case–parent triad and case–control study
AssociationN=4,300Shehnaz K. Hussain et al.(2013)· International Journal of Cancer

This hybrid case-parent triad and case-control study examined associations between 76 tagSNPs in IL10 and IL12 cytokine pathway genes (IL10, IL12A, IL12B, IL10RA, IL10RB, IL12RB1, IL12RB2) and cervical/vulvar cancer risk. Key findings include: IL10RA rs9610 (OR=1.76, 95% CI 1.15–2.68) and rs4252314 (OR=2.23, 95% CI 1.26–3.96) associated with increased cervical cancer risk; IL12RB2 rs4297265 (OR=0.46) and rs2229546 (OR=0.43) associated with reduced cervical SCC risk; IL12B rs3181224 associated with reduced vulvar SCC risk (OR=0.30, 95% CI 0.12–0.74); and IL12RB1 rs11575934 (OR=1.51, 95% CI 1.12–2.05) associated with increased cervical adenocarcinoma risk.

Traits studied:Cervical adenocarcinomaCervical squamous cell carcinomaVulvar squamous cell carcinoma
PubMedDOIMetascience Observatory
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Genetic predictors of medically refractory ulcerative colitis
AssociationN=861Talin Haritunians et al.(2010)· Inflammatory Bowel Diseases

Genome-wide association study identifying 46 SNPs associated with medically refractory ulcerative colitis (MR-UC) that together explain 48% of the variance in colectomy risk. A genetic risk score based on these SNPs achieved an AUC of 0.91 in predicting colectomy need, with risk categories showing 0-100% colectomy rates. Genome-wide significant associations were confirmed at the MHC region (rs17207986, p=1.4×10^-16) and suggestive association at TNFSF15/TL1A (rs11554257, p=1.4×10^-6).

Traits studied:Colectomy riskExtensive diseaseMedically refractory ulcerative colitisUlcerative colitis severity
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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