rs6920220
| rheumatoid arthritis |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3.5 | 1.7x risk of Rheumatoid Arthritis |
| (A;G) | 3 | 1.2x risk Rheumatoid Arthritis |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 137685367 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6920220 |
| dbSNP (classic) | rs6920220 |
| ClinGen | rs6920220 |
| ebi | rs6920220 |
| HLI | rs6920220 |
| Exac | rs6920220 |
| Gnomad | rs6920220 |
| Varsome | rs6920220 |
| LitVar | rs6920220 |
| Map | rs6920220 |
| PheGenI | rs6920220 |
| Biobank | rs6920220 |
| 1000 genomes | rs6920220 |
| hgdp | rs6920220 |
| ensembl | rs6920220 |
| geneview | rs6920220 |
| scholar | rs6920220 |
| rs6920220 | |
| pharmgkb | rs6920220 |
| gwascentral | rs6920220 |
| openSNP | rs6920220 |
| 23andMe | rs6920220 |
| SNPshot | rs6920220 |
| SNPdbe | rs6920220 |
| MSV3d | rs6920220 |
| GWAS Ctlg | rs6920220 |
| GMAF | 0.1047 |
| Max Magnitude | 3.5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
rs6920220 has been reported in a large study to be associated with rheumatoid arthritis.
The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.20 (CI 1.06-1.36), and for homozygotes, 1.72 (CI 1.33-2.22). [PMID 17554300
]
[PMID 19417005] rheumatoid arthritis
- rs6920220 [P= 2.6 x 10(-6), OR 1.22 (1.13-1.33)].
- rs5029937
- rs13207033 protective [P= 0.0001, OR 0.86 (0.8-0.93)] perfectly correlated with rs10499194
The combination of the carriage of both risk alleles of rs6920220 and rs5029937 together with the absence of the protective allele of rs13207033 was strongly associated with RA when compared to carriage of none [OR of 1.86 (95% CI) (1.51-2.29)]. This equates to an effect size of 1.50 (95% CI 1.21-1.85)
[PMID 19401279] Susceptibility variants for rheumatoid arthritis in the TRAF1-C5 and 6q23 loci: a meta-analysis
| GWAS snp | |
|---|---|
| PMID | [PMID 18794853]
|
| Trait | Rheumatoid arthritis |
| Title | Common variants at CD40 and other loci confer risk of rheumatoid arthritis |
| Risk Allele | |
| P-val | 2E-9 |
| Odds Ratio | 1.24 [1.16-1.32] |
| GWAS snp | |
|---|---|
| PMID | [PMID 17982456]
|
| Trait | Rheumatoid arthritis |
| Title | Two independent alleles at 6q23 associated with risk of rheumatoid arthritis |
| Risk Allele | |
| P-val | 9.9999999999999995E-8 |
| Odds Ratio | 1.22 [NR] |
[PMID 19565500] Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis
[PMID 20511617] Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population
[PMID 19366996] Association of the 6q23 region with the rate of joint destruction in rheumatoid arthritis
| GWAS snp | |
|---|---|
| PMID | [PMID 20453842]
|
| Trait | Rheumatoid arthritis |
| Title | Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk lock |
| Risk Allele | A |
| P-val | 9E-13 |
| Odds Ratio | 1.22 [1.16-1.29] |
[PMID 20921970] A genetic marker at the OLIG3/TNFAIP3 locus associates with methotrexate continuation in early inflammatory polyarthritis: results from the Norfolk Arthritis Register
[PMID 21120996] Most common single-nucleotide polymorphisms associated with rheumatoid arthritis in persons of European ancestry confer risk of rheumatoid arthritis in African Americans
| GWAS snp | |
|---|---|
| PMID | [PMID 21297633]
|
| Trait | |
| Title | Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 |
| Risk Allele | A |
| P-val | 8E-17 |
| Odds Ratio | 1.1400 [1.09-1.20] |
[PMID 18625055] Lack of association or interactions between the IL-4, IL-4Ralpha and IL-13 genes, and rheumatoid arthritis.
[PMID 18794857] Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13.
[PMID 18853133] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
[PMID 18987647] Rheumatoid arthritis: a view of the current genetic landscape.
[PMID 19165918] Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
[PMID 19169254] Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
[PMID 19180477] Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations.
[PMID 19292917] Analysis of TNFAIP3, a feedback inhibitor of nuclear factor-kappaB and the neighbor intergenic 6q23 region in rheumatoid arthritis susceptibility.
[PMID 19321514] 6q23 polymorphisms in rheumatoid arthritis Spanish patients.
[PMID 19387456] Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations.
[PMID 19439038] Complex genetic association of 6q23 with autoimmune rheumatic conditions.
[PMID 19445664] Association of common polymorphisms in known susceptibility genes with rheumatoid arthritis in a Slovak population using osteoarthritis patients as controls.
[PMID 19674979] Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis.
[PMID 19838195] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
[PMID 19956648] Pathway analysis of GWAS provides new insights into genetic susceptibility to 3 inflammatory diseases.
[PMID 20017963] Representation of genetic association via attributable familial relative risks in order to identify polymorphisms functionally relevant to rheumatoid arthritis.
[PMID 20018027] Conditional analysis of the major histocompatibility complex in rheumatoid arthritis.
[PMID 20231195] Lack of association between the rs6920220 (G/A) polymorphism of the 6q23 region and biopsy-proven giant cell arteritis.
[PMID 20353580] Evaluation of the rheumatoid arthritis susceptibility loci HLA-DRB1, PTPN22, OLIG3/TNFAIP3, STAT4 and TRAF1/C5 in an inception cohort.
[PMID 20426808] AntEpiSeeker: detecting epistatic interactions for case-control studies using a two-stage ant colony optimization algorithm.
[PMID 20439292] Genetic variants in the prediction of rheumatoid arthritis.
[PMID 20444755] Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment.
[PMID 20617138] Association of TNFAIP3 polymorphism with susceptibility to systemic lupus erythematosus in a Japanese population.
[PMID 20973039] Most common SNPs associated with rheumatoid arthritis in subjects of European ancestry confer risk of rheumatoid arthritis in African-Americans.
[PMID 21383967] Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
[PMID 21833526] A Tunisian case-control association study of a 6q polymorphism in rheumatoid arthritis.
[PMID 22402800] Associations between TNFAIP3 gene polymorphisms and rheumatoid arthritis: a meta-analysis.
| GWAS snp | |
|---|---|
| PMID | [PMID 23128233]
|
| Trait | Inflammatory bowel disease |
| Title | Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. |
| Risk Allele | A |
| P-val | 1E-21 |
| Odds Ratio | 1.10 [1.064-1.141] |
[PMID 22328738] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.
[PMID 22798268] Rheumatoid arthritis-associated polymorphisms at 6q23 are associated with radiological damage in autoantibody-positive RA.
[PMID 22843550] Genetic variation and alterations of genes involved in NFkappaB/TNFAIP3- and NLRP3-inflammasome signaling affect susceptibility and outcome of colorectal cancer.
| GWAS snp | |
|---|---|
| PMID | [PMID 24449572]
|
| Trait | Rheumatoid arthritis |
| Title | Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. |
| Risk Allele | |
| P-val | 3E-8 |
| Odds Ratio | 1.23 [1.14-1.32] |
[PMID 28448618] rs10499194 polymorphism in the tumor necrosis factor-α inducible protein 3 (TNFAIP3) gene is associated with type-1 autoimmune hepatitis risk in Chinese Han population.
[PMID 31534975] TNFAIP3 Gene Polymorphisms in Three Common Autoimmune Diseases: Systemic Lupus Erythematosus, Rheumatoid Arthritis, and Primary Sjogren Syndrome-Association with Disease Susceptibility and Clinical Phenotypes in Italian Patients.
[PMID 32671985] Inherited variant in NFκB-1 promoter is associated with increased risk of IBD in an Algerian population and modulates SOX9 binding.
