rs2546890

This is a coding sequence variant variant in the LOC285626 gene.

GWAS Catalog Trait Associations (5)

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

psoriasis

Allele A
OR 1.54
p 1.0e-20
N 1,618
Large GWAS
European

multiple sclerosis

Allele A
OR 1.09
p 5.0e-19
N 41,505
Large GWAS
multi-ancestry
Shigesi N et al. The phenotypic and genetic association between endometriosis and immunological diseases. Human Reproduction (oxford, England) 40(6):1195-1209 (2025)
Allele A
OR 0.05
p 8.0e-13
N 62,543
Large GWAS
European
Allele A
OR 1.11
p 1.0e-11
N 26,621
Large GWAS
European

systemic lupus erythematosus

Allele A
OR 0.05
p 3.0e-12
N 718,496
Large GWAS
multi-ancestry

primary biliary cirrhosis

Allele A
OR 0.14
p 3.0e-11
N 24,510
Meta-analysisLarge GWAS
European
Allele A
OR 1.15
p 1.0e-10
N 13,239
Meta-analysisLarge GWAS
European

Research that mentions this SNP (3)

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
Meta-analysis of IL12B polymorphisms (rs3212227, rs6887695) with psoriasis and psoriatic arthritis
Meta-analysisN=13,050Kun-Ju Zhu et al.(2013)· Rheumatology International

Meta-analysis of 11 studies examining IL12B polymorphisms rs3212227 and rs6887695 in psoriasis and psoriatic arthritis. For rs3212227, pooled odds ratios for the minor allele were 0.688 (95% CI 0.650-0.729) for psoriasis and 0.707 (95% CI 0.628-0.797) for PsA; for rs6887695, pooled ORs were 0.704 (95% CI 0.670-0.739) for psoriasis and 0.677 (95% CI 0.599-0.767) for PsA, demonstrating significant protective associations with both variants.

Traits studied:PsoriasisPsoriasis vulgarisPsoriatic arthritis
Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility loci
Meta-analysisN=17,698Patsopoulos NA et al.(2011)· Annals of Neurology

This meta-analysis of 7 genome-wide association studies identified three novel multiple sclerosis susceptibility loci: rs170934 near EOMES (3p24.1, OR=1.17, P=1.6×10⁻⁸), rs2150702 in MLANA (9p24.1, OR=1.16, P=3.3×10⁻⁸), and rs6718520 near THADA (2p21, OR=1.17, P=3.4×10⁻⁸). The analysis encompassed 5,545 cases and 12,153 controls and identified 10 additional loci with suggestive evidence of association (P<1×10⁻⁶), including IL12B, TAGAP, PLEK, and ZMIZ1, which are shared with other inflammatory diseases.

Traits studied:Celiac diseaseCrohn's diseaseMultiple sclerosisPsoriasisRheumatoid arthritisSystemic lupus erythematosusType 1 diabetesUlcerative colitis

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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