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rs6887695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) normal
(C;G)
(G;G) 1.4x increased risk of psoriasis, psoriatic arthritis
ReferenceGRCh38 38.1/141
Chromosome5
Position159395637
is asnp
is mentioned by
dbSNPrs6887695
ebirs6887695
HLIrs6887695
Exacrs6887695
Varsomers6887695
Maprs6887695
PheGenIrs6887695
hapmaprs6887695
1000 genomesrs6887695
hgdprs6887695
ensemblrs6887695
gopubmedrs6887695
geneviewrs6887695
scholarrs6887695
googlers6887695
pharmgkbrs6887695
gwascentralrs6887695
openSNPrs6887695
23andMers6887695
23andMe allrs6887695
SNP Nexus

SNPshotrs6887695
SNPdbers6887695
MSV3drs6887695
GWAS Ctlgrs6887695
GMAF0.3976
Max Magnitude
? (C;C) (C;G) (G;G) 28
IL12B gene SNP, part of a haplotype with rs3212227 associated with psoriasis.[PMID 18219280OA-icon.png]

[PMID 18369459OA-icon.png] 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 19035472OA-icon.png]

GWAS snp
PMID [PMID 17554261OA-icon.png]
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]
OMIM612278
DescINFLAMMATORY BOWEL DISEASE 19; IBD19
Variant
Relatedalso
[PMID 19705136OA-icon.png] 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

OMIM605606
Desc
Variant
Relatedalso
OMIM607507
Desc
Variant
Relatedalso
OMIM612599
Desc
Variant
Relatedalso


[PMID 22621617] No Association between IL12B Gene Polymorphisms and Graves' Disease in the Chinese Population


[PMID 22666261OA-icon.png] 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 17236132OA-icon.png] 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 18438406OA-icon.png] Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.


[PMID 18533027OA-icon.png] Worldwide population differentiation at disease-associated SNPs.


[PMID 18609743OA-icon.png] 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 19140132OA-icon.png] Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.


[PMID 19182814OA-icon.png] New insights into the pathogenesis and genetics of psoriatic arthritis.


[PMID 19838195OA-icon.png] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.


[PMID 20606885OA-icon.png] 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 21214922OA-icon.png] Psoriasis prediction from genome-wide SNP profiles.


GET Evidence
rs6887695
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.40625
summary



[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