rs7709212

This is a intron variant variant in the LOC285626 gene.

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GWAS Catalog Trait Associations (2)

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

psoriasis vulgaris

Stuart PE et al. “Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.” American Journal of Human Genetics 97(6):816-36 (2015)
Allele T
OR 1.36
p 2.0e-42
N 8,941
Large GWAS
European

psoriasis

Yin X et al. “Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.” Nature Communications 6:6916 (2015)
Allele T
OR 1.40
p 1.0e-11
N 13,816
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (3)

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Association of IL-12B gene rs6887695 polymorphism with hereditary susceptibility and clinical characterization of psoriasis vulgaris in the Chinese Han population
AssociationN=1,978Yumei Wu et al.(2013)· Archives of Dermatological Research

A case-control study of 575 Chinese Han psoriasis patients and 1,403 controls found that IL-12B rs6887695 G allele is significantly associated with psoriasis vulgaris susceptibility (OR=1.34, p=4.77e-005), particularly with plaque psoriasis, but not with age of onset, family history, or gender. The genotype GG was the most important genotype for psoriasis pathogenesis.

Traits studied:Guttate psoriasisPlaque psoriasisPsoriasis vulgaris
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
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Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis
AssociationN=1,653Capon F. et al.(2007)· Human Genetics

A candidate gene study of 837 psoriasis cases and 816 controls identified protective variants in IL-23 signaling genes. IL23R p.Arg381Gln (rs11209026) showed reduced frequency in cases vs controls (P=0.00014, OR=0.49). IL12B variants rs10045431 (P=0.0001, OR=1.41) and rs3212227 (P=0.036, OR=0.76) showed independent associations, establishing IL23 receptor signaling as a major pathway in psoriasis susceptibility.

Traits studied:Psoriasis
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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