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rs3761847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 2.1 1.32 x risk of rheumatoid arthritis.
(G;G) 2.2 >1.32 x risk of rheumatoid arthritis
ReferenceGRCh38 38.1/141
Chromosome9
Position120927961
GeneTRAF1
is asnp
is mentioned by
dbSNPrs3761847
ebirs3761847
HLIrs3761847
Exacrs3761847
Varsomers3761847
Maprs3761847
PheGenIrs3761847
hapmaprs3761847
1000 genomesrs3761847
hgdprs3761847
ensemblrs3761847
gopubmedrs3761847
geneviewrs3761847
scholarrs3761847
googlers3761847
pharmgkbrs3761847
gwascentralrs3761847
openSNPrs3761847
23andMers3761847
23andMe allrs3761847
SNP Nexus

SNPshotrs3761847
SNPdbers3761847
MSV3drs3761847
GWAS Ctlgrs3761847
GMAF0.4816
Max Magnitude2.2
? (A;A) (A;G) (G;G) 28
rs3761847, a SNP located between two genes associated with chronic inflammation (TRAF1 and C5), is associated with increased risk of anti CCP-positive rheumatoid arthritis.

The risk allele is (G); the odds ratio reported is 1.32 (95% confidence interval, 1.23 to 1.42; P=4x10-14) [PMID 17804836OA-icon.png].

[PMID 19116907] rs3761847(G;G) associated with an increased risk of death (hazard ratio 3.96 [95% confidence interval 1.24-12.6], P = 0.020) as compared with (A;A) homozygote status. The excess mortality was attributed to deaths due to malignancies and sepsis but not cardiovascular disease (CVD).

Neighborrs2416806
Distance53
GWAS
SNP rs3761847
PubMedID [PMID 17804836OA-icon.png]
Condition Rheumatoid arthritis
Gene TRAF1-C5
Risk Allele G
pValue 4.00E-014
OR 1.32
95% CI 1.23-1.42


[PMID 19401279] Susceptibility variants for rheumatoid arthritis in the TRAF1-C5 and 6q23 loci: a meta-analysis


[PMID 19565500OA-icon.png] Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis

OMIM180300
DescRHEUMATOID ARTHRITIS; RA
Variant
Relatedalso
OMIM120900
DescCOMPLEMENT COMPONENT 5; C5
Variant
Relatedalso
OMIM601711
DescTNF RECEPTOR-ASSOCIATED FACTOR 1; TRAF1
Variant
Relatedalso

[PMID 19714643] TRAF1 polymorphisms associated with rheumatoid arthritis susceptibility in Asians and in Caucasians



[PMID 19336421] Association study of TRAF1-C5 polymorphisms with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in Japanese

GWAS snp
PMID [PMID 20453842OA-icon.png]
Trait Rheumatoid arthritis
Title Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk lock
Risk Allele G
P-val 2E-7
Odds Ratio 1.13 [1.08-1.18]


[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


[PMID 18434327OA-icon.png] Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility.


[PMID 18648537OA-icon.png] A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2.


[PMID 18794853OA-icon.png] Common variants at CD40 and other loci confer risk of rheumatoid arthritis.


[PMID 18987647OA-icon.png] Rheumatoid arthritis: a view of the current genetic landscape.


[PMID 19180477OA-icon.png] Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations.


[PMID 19445664OA-icon.png] Association of common polymorphisms in known susceptibility genes with rheumatoid arthritis in a Slovak population using osteoarthritis patients as controls.


[PMID 19674979OA-icon.png] Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis.


[PMID 19849816OA-icon.png] Genetics of rheumatic disease.


[PMID 20017974OA-icon.png] Simultaneous analysis of all single-nucleotide polymorphisms in genome-wide association study of rheumatoid arthritis.


[PMID 20017985OA-icon.png] Adjusting for HLA-DRbeta1 in a genome-wide association analysis of rheumatoid arthritis and related biomarkers.


[PMID 20017996OA-icon.png] Effect of population stratification on the identification of significant single-nucleotide polymorphisms in genome-wide association studies.


[PMID 20018005OA-icon.png] Analysis of genome-wide association data by large-scale Bayesian logistic regression.


[PMID 20018006OA-icon.png] Case-control genome-wide association study of rheumatoid arthritis from Genetic Analysis Workshop 16 using penalized orthogonal-components regression-linear discriminant analysis.


[PMID 20018022OA-icon.png] Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data.


[PMID 20018027OA-icon.png] Conditional analysis of the major histocompatibility complex in rheumatoid arthritis.


[PMID 20018028OA-icon.png] Armitage's trend test for genome-wide association analysis: one-sided or two-sided?


[PMID 20018035OA-icon.png] A combinatorial approach for detecting gene-gene interaction using multiple traits of Genetic Analysis Workshop 16 rheumatoid arthritis data.


[PMID 20018053OA-icon.png] A genome-wide association scan for rheumatoid arthritis data by Hotelling's T2 tests.


[PMID 20018062OA-icon.png] Identification of genes and haplotypes that predict rheumatoid arthritis using random forests.


[PMID 20018071OA-icon.png] Allelic based gene-gene interactions in rheumatoid arthritis.


[PMID 20018074OA-icon.png] Identifying rheumatoid arthritis susceptibility genes using high-dimensional methods.


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


[PMID 20018090OA-icon.png] Comparative analysis of different approaches for dealing with candidate regions in the context of a genome-wide association study.


[PMID 20205706OA-icon.png] TRAF1/C5 polymorphism is not associated with increased mortality in rheumatoid arthritis: two large longitudinal studies.


[PMID 20479942OA-icon.png] Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.


[PMID 20691091OA-icon.png] Survival dimensionality reduction (SDR): development and clinical application of an innovative approach to detect epistasis in presence of right-censored data.


GET Evidence
rs3761847
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.53125
summary



[PMID 22820624] Associations between TNFSF4 and TRAF1-C5 gene polymorphisms and systemic lupus erythematosus: a meta-analysis.


[PMID 25834819OA-icon.png] TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Anti-Tumor Necrosis Factor Therapy