rs10954213
| Orientation | plus |
| Stabilized | plus |
| Make rs10954213(A;A) |
| Make rs10954213(A;G) |
| Make rs10954213(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 128949373 |
| Gene | IRF5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10954213 |
| dbSNP (classic) | rs10954213 |
| ClinGen | rs10954213 |
| ebi | rs10954213 |
| HLI | rs10954213 |
| Exac | rs10954213 |
| Gnomad | rs10954213 |
| Varsome | rs10954213 |
| LitVar | rs10954213 |
| Map | rs10954213 |
| PheGenI | rs10954213 |
| Biobank | rs10954213 |
| 1000 genomes | rs10954213 |
| hgdp | rs10954213 |
| ensembl | rs10954213 |
| geneview | rs10954213 |
| scholar | rs10954213 |
| rs10954213 | |
| pharmgkb | rs10954213 |
| gwascentral | rs10954213 |
| openSNP | rs10954213 |
| 23andMe | rs10954213 |
| SNPshot | rs10954213 |
| SNPdbe | rs10954213 |
| MSV3d | rs10954213 |
| GWAS Ctlg | rs10954213 |
| GMAF | 0.4683 |
| Max Magnitude | 0 |
[PMID 18063667] Systemic Lupus Erythematosus rs10488631 rs2004640 rs10954213 and rs729302
[PMID 18311811] Japanese 277 SLE patients and 201 controls. Carriers of the rs2004640T slightly increased among SLE patients (58.8%) as compared with controls (50.2%). When data from our Japanese population were combined with previously published data from a Korean population, the T allele frequency was found to be significantly increased in SLE patients (P = 8.3 x 10(-5)). While no association was observed for the rs10954213 . significant associations with 3 intron 1 SNPs (-4001, rs6953165, and rs41298401) were found. The allele frequency of rs41298401G was significantly decreased in SLE patients (13.0% versus 18.7% in controls; P = 0.017), and the allele frequency of rs6953165G, which was in absolute linkage disequilibrium with -4001A, was increased in SLE patients (8.8% versus 5.2% in controls; P = 0.034). The Caucasian risk haplotype was not present; instead, a protective haplotype carrying rs2004640G, rs41298401G, the deletion in exon 6, and rs10954213A was identified. SNP rs10954213
[PMID 18063667] A variant located 64 bp upstream of the first untranslated exon (exon 1A), consisting of a 5 bp insertion/deletion CGGGG, may be the causative SNP in this region that is most responsible for increasing SLE risk, the rs# for the CGGGG insertion/deletion is rs77571059.
[PMID 19479858] Of 3 IRF5 SNPs studied, the rs2280714(A) SNP - and not this one - had the strongest association (odds ratio 1.42, CI: 1.15-1.75) in Japanese SLE patients.
[PMID 19644876] Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome
[PMID 19772658
] Exon expression in lymphoblastoid cell lines from subjects with schizophrenia before and after glucose deprivation
[PMID 20691091] Survival dimensionality reduction (SDR): development and clinical application of an innovative approach to detect epistasis in presence of right-censored data
[PMID 20980283] The interferon regulatory factor 5 gene confers susceptibility to rheumatoid arthritis and influences its erosive phenotype
[PMID 21627826] Cis-regulation of IRF5 expression is unable to fully account for Systemic Lupus Erythematosus association: analysis from multiple experiments with lymphoblastoid cell lines
[PMID 17189288] Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation.
[PMID 17393452] Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus.
[PMID 17412832] Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.
[PMID 18050197] Association of an IRF5 gene functional polymorphism with Sjogren's syndrome.
[PMID 18200047] IFN-regulatory factor 5 gene variants interact with the class I MHC locus in the Swedish psoriasis population.
[PMID 18285424] Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations.
[PMID 18668568] Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients.
[PMID 19567624] Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus.
[PMID 19758313] Tyrosine kinase 2 and interferon regulatory factor 5 polymorphisms are associated with discoid and subacute cutaneous lupus erythematosus.
[PMID 20080916] Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripheral blood mononuclear cells.
[PMID 20112383] Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus.
[PMID 20137629] [Relationship between polymorphism sites of IRF5, TLR-9 and SLE patients in Shandong Han population].
[PMID 20231204] Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity.
[PMID 20479942] Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.
[PMID 20639879] Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.
[PMID 20652065] Interferon alpha in systemic lupus erythematosus.
[PMID 21834935] A meta-analysis of the association of IRF5 polymorphism with systemic lupus erythematosus.
[PMID 23392701] Association of rs10954213 polymorphisms and haplotype diversity in interferon regulatory factor 5 with systemic lupus erythematosus: A meta-analysis
[PMID 23288367] Interferon regulatory factor 5 polymorphisms in sarcoidosis.
[PMID 24116155] Two functional variants of IRF5 influence the development of macular edema in patients with non-anterior uveitis
[PMID 25564941] Association between genetic polymorphisms in Interferon Regulatory Factor 5 (IRF5) gene and Malaysian patients with Crohn's disease
| ClinVar | |
|---|---|
| Risk | rs10954213(A;A) |
| Alt | rs10954213(A;A) |
| Reference | rs10954213(G;G) |
| Significance | Other |
| Disease | Systemic lupus erythematosus 10 |
| Variation | info |
| Gene | IRF5 |
| CLNDBN | Systemic lupus erythematosus 10 |
| Reversed | 0 |
| HGVS | NC_000007.13:g.128589427G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003566.2, |
[PMID 26294277] Genetic association and interaction between the IRF5 and TYK2 genes and systemic lupus erythematosus in the Han Chinese population
