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rs6457617

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome6
Position32696074
is asnp
is mentioned by
dbSNPrs6457617
ebirs6457617
HLIrs6457617
Exacrs6457617
Varsomers6457617
Maprs6457617
PheGenIrs6457617
hapmaprs6457617
1000 genomesrs6457617
hgdprs6457617
ensemblrs6457617
gopubmedrs6457617
geneviewrs6457617
scholarrs6457617
googlers6457617
pharmgkbrs6457617
gwascentralrs6457617
openSNPrs6457617
23andMers6457617
23andMe allrs6457617
SNP Nexus

SNPshotrs6457617
SNPdbers6457617
MSV3drs6457617
GWAS Ctlgrs6457617
GMAF0.4389
Max Magnitude2.1
? (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.

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 17554300OA-icon.png]

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 20383147OA-icon.png]
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 21750679OA-icon.png] 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 22355377OA-icon.png] 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 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


[PMID 19116921OA-icon.png] 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 19846760OA-icon.png] Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases.


[PMID 20017963OA-icon.png] Representation of genetic association via attributable familial relative risks in order to identify polymorphisms functionally relevant to rheumatoid arthritis.


[PMID 20018025OA-icon.png] Genome-wide analysis of haplotype interaction for the data from the North American Rheumatoid Arthritis Consortium.


[PMID 20018049OA-icon.png] Evaluation of an optimal receiver operating characteristic procedure.


[PMID 20018075OA-icon.png] Genome-wide association study of rheumatoid arthritis by a score test based on wavelet transformation.


[PMID 20018081OA-icon.png] Assessment of gene-covariate interactions by incorporating covariates into association mapping.


[PMID 20369022OA-icon.png] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.


[PMID 20426808OA-icon.png] AntEpiSeeker: detecting epistatic interactions for case-control studies using a two-stage ant colony optimization algorithm.


[PMID 20546594OA-icon.png] 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.


GET Evidence
rs6457617
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.54918
summary



[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