rs6887695
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | normal | |
| (C;G) | ||
| (G;G) | 1.4x increased risk of psoriasis, psoriatic arthritis |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 159395637 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6887695 |
| dbSNP (classic) | rs6887695 |
| ClinGen | rs6887695 |
| ebi | rs6887695 |
| HLI | rs6887695 |
| Exac | rs6887695 |
| Gnomad | rs6887695 |
| Varsome | rs6887695 |
| LitVar | rs6887695 |
| Map | rs6887695 |
| PheGenI | rs6887695 |
| Biobank | rs6887695 |
| 1000 genomes | rs6887695 |
| hgdp | rs6887695 |
| ensembl | rs6887695 |
| geneview | rs6887695 |
| scholar | rs6887695 |
| rs6887695 | |
| pharmgkb | rs6887695 |
| gwascentral | rs6887695 |
| openSNP | rs6887695 |
| 23andMe | rs6887695 |
| SNPshot | rs6887695 |
| SNPdbe | rs6887695 |
| MSV3d | rs6887695 |
| GWAS Ctlg | rs6887695 |
| GMAF | 0.3976 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
IL12B gene SNP, part of a haplotype with rs3212227 associated with psoriasis.[PMID 18219280
]
[PMID 18369459] rs6887695 confirmed to be associated with psoriasis in another study
A study of 500+ patients with psoriatic arthritis (PsA) concluded that the odds ratio for rs6887695(G;G) carriers was 1.43 (CI: 1.18-1.74). The effect sizes observed in patients with PsA appear to be smaller than those previously reported in patients with psoriasis, suggesting that both loci are primarily associated with psoriasis susceptibility rather than primarily with psoriatic arthritis.[PMID 19035472]
| GWAS snp | |
|---|---|
| PMID | [PMID 17554261]
|
| Trait | Crohn's disease |
| Title | Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility |
| Risk Allele | |
| P-val | 0.0000090000000000000002 |
| Odds Ratio | 1.26 [1.12-1.41] |
[PMID 19705136] Genetic evidence for involvement of the IL23 pathway in Thai psoriatics
[PMID 19953089] Differences in genetic background between active smokers, passive smokers, and non-smokers with Crohn's disease
[PMID 22621617] No Association between IL12B Gene Polymorphisms and Graves' Disease in the Chinese Population
[PMID 22666261] The Association of IL-12b Polymorphisms with Systemic Lupus Erythematosus in Chinese Han Population
[PMID 22739501] Resequencing of the IL12B gene in psoriasis patients with the rs6887695/rs3212227 risk genotypes
[PMID 17236132] A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.
[PMID 18383521] IL23R and IL12B polymorphisms in Spanish IBD patients: no evidence of interaction.
[PMID 18438406] Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
[PMID 18533027] Worldwide population differentiation at disease-associated SNPs.
[PMID 18609743] Genetics of psoriasis and psoriatic arthritis: update and future direction.
[PMID 18800148] Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis.
[PMID 18936107] Positive association of genetic variants in the upstream region of NKX2-3 with Crohn's disease in Japanese patients.
[PMID 19140132] Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.
[PMID 19182814] New insights into the pathogenesis and genetics of psoriatic arthritis.
[PMID 19838195] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
[PMID 20606885] Genetics of psoriasis and psoriatic arthritis.
[PMID 20875477] Replication of association between interleukin-23 receptor (IL-23R) and its ligand (IL-12B) polymorphisms and psoriasis in the Chinese Han population.
[PMID 21198744] The clinical presentation of autoimmune thyroid disease in men is associated with IL12B genotype.
[PMID 21214922] Psoriasis prediction from genome-wide SNP profiles.
[PMID 23093722] Exploring ankylosing spondylitis-associated ERAP1, IL23R and IL12B gene polymorphisms in subphenotypes of psoriatic arthritis
[PMID 22194214] Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CBLB [correction of CLBL] genes
[PMID 23578145] Levels of interleukin-(IL)-12p40 are markedly increased in brucellosis among patients with specific IL-12B genotypes
[PMID 24140476] Genetic variations in IL6 and IL12B decreasing the risk for psoriasis
[PMID 23297015] Meta-analysis of IL12B polymorphisms (rs3212227, rs6887695) with psoriasis and psoriatic arthritis
[PMID 23564024] Association of IL-12B gene rs6887695 polymorphism with hereditary susceptibility and clinical characterization of psoriasis vulgaris in the Chinese Han population.
[PMID 24957500] Genetic variation at IL12B, IL23R and IL23A is associated with psoriasis severity, psoriatic arthritis and type 2 diabetes mellitus
[PMID 28289589] Polymorphism of the IL13 gene may be associated with Uterine leiomyomas in Slovenian women.
[PMID 31114439] Ankylosing spondylitis: analysis of gene-gene interactions between IL-12β, JAK2, and STAT3 in Han Chinese and Algerian cohorts.
[PMID 32349161] Immuno-Related Gene Polymorphisms associated with Acute Myeloid Leukemia.
[PMID 33390082] The Polymorphisms of Interleukin-12B Gene and Susceptibility to Inflammatory Bowel Diseases: A Meta-analysis and Trial Sequential Analysis.
