rs6457617
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 2 | 2.3x risk of rheumatoid arthritis |
| (T;T) | 2.1 | 5.2x risk of rheumatoid arthritis |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 32696074 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6457617 |
| dbSNP (classic) | rs6457617 |
| ClinGen | rs6457617 |
| ebi | rs6457617 |
| HLI | rs6457617 |
| Exac | rs6457617 |
| Gnomad | rs6457617 |
| Varsome | rs6457617 |
| LitVar | rs6457617 |
| Map | rs6457617 |
| PheGenI | rs6457617 |
| Biobank | rs6457617 |
| 1000 genomes | rs6457617 |
| hgdp | rs6457617 |
| ensembl | rs6457617 |
| geneview | rs6457617 |
| scholar | rs6457617 |
| rs6457617 | |
| pharmgkb | rs6457617 |
| gwascentral | rs6457617 |
| openSNP | rs6457617 |
| 23andMe | rs6457617 |
| SNPshot | rs6457617 |
| SNPdbe | rs6457617 |
| MSV3d | rs6457617 |
| GWAS Ctlg | rs6457617 |
| GMAF | 0.4389 |
| Max Magnitude | 2.1 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs6457617 has been reported in a large study to be associated with rheumatoid arthritis. This SNP is reported to be the most statistically significant of many SNPs similarly located in the MHC region.
Tag-snp for HLA-DQA1*03.
The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated with heterozygotes is 2.36 (CI 1.97-2.84), and for homozygotes, 5.21 (CI 4.31-6.30). [PMID 17554300
]
| GWAS snp | |
|---|---|
| PMID | [PMID 18668548] |
| Trait | Rheumatoid arthritis |
| Title | Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility |
| Risk Allele | |
| P-val | 1.0000000000000001E-9 |
| Odds Ratio | NR NR |
[PMID 19714643] TRAF1 polymorphisms associated with rheumatoid arthritis susceptibility in Asians and in Caucasians
| GWAS snp | |
|---|---|
| PMID | [PMID 20383147]
|
| Trait | Systemic sclerosis |
| Title | Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus |
| Risk Allele | |
| P-val | 4E-17 |
| Odds Ratio | 1.37 [1.28-1.47] |
[PMID 21750679] Genome-Wide Scan Identifies TNIP1, PSORS1C1, and RHOB as Novel Risk Loci for Systemic Sclerosis
| GWAS snp | |
|---|---|
| PMID | [PMID 21841780] |
| Trait | |
| Title | A genome-wide association study identifies two new risk loci for Graves' disease. |
| Risk Allele | T |
| P-val | 7E-33 |
| Odds Ratio | 1.4000 [1.32-1.48] |
[PMID 22355377] Caucasian and asian specific rheumatoid arthritis risk Loci reveal limited replication and apparent allelic heterogeneity in north indians
[PMID 17660530] Risk alleles for multiple sclerosis identified by a genomewide study.
[PMID 18204098] Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
[PMID 19116921] Different patterns of associations with anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis in the extended major histocompatibility complex region.
[PMID 19846760] Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases.
[PMID 20017963] Representation of genetic association via attributable familial relative risks in order to identify polymorphisms functionally relevant to rheumatoid arthritis.
[PMID 20018025] Genome-wide analysis of haplotype interaction for the data from the North American Rheumatoid Arthritis Consortium.
[PMID 20018049] Evaluation of an optimal receiver operating characteristic procedure.
[PMID 20018075] Genome-wide association study of rheumatoid arthritis by a score test based on wavelet transformation.
[PMID 20018081] Assessment of gene-covariate interactions by incorporating covariates into association mapping.
[PMID 20369022] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
[PMID 20426808] AntEpiSeeker: detecting epistatic interactions for case-control studies using a two-stage ant colony optimization algorithm.
[PMID 20546594] An application of Random Forests to a genome-wide association dataset: methodological considerations & new findings.
[PMID 21739420] Genetic variants in the HLA-DRB1 gene are associated with Kashin-Beck disease in the Tibetan population.
[PMID 25893807] Persistent HPV16/18 infection in Indian women with the A-allele (rs6457617) of HLA-DQB1 and T-allele (rs16944) of IL-1β -511 is associated with development of cervical carcinoma
[PMID 29168332] Associative role of HLA-DRB1 SNP genotypes as risk factors for susceptibility and severity of rheumatoid arthritis: A North-east Indian population-based study.
