rs2070197
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs2070197(C;C) |
| Make rs2070197(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 128948946 |
| Gene | IRF5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2070197 |
| dbSNP (classic) | rs2070197 |
| ClinGen | rs2070197 |
| ebi | rs2070197 |
| HLI | rs2070197 |
| Exac | rs2070197 |
| Gnomad | rs2070197 |
| Varsome | rs2070197 |
| LitVar | rs2070197 |
| Map | rs2070197 |
| PheGenI | rs2070197 |
| Biobank | rs2070197 |
| 1000 genomes | rs2070197 |
| hgdp | rs2070197 |
| ensembl | rs2070197 |
| geneview | rs2070197 |
| scholar | rs2070197 |
| rs2070197 | |
| pharmgkb | rs2070197 |
| gwascentral | rs2070197 |
| openSNP | rs2070197 |
| 23andMe | rs2070197 |
| SNPshot | rs2070197 |
| SNPdbe | rs2070197 |
| MSV3d | rs2070197 |
| GWAS Ctlg | rs2070197 |
| GMAF | 0.05418 |
| Max Magnitude | 0 |
[PMID 19644876] Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome
[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 17476532] Genetic association of IRF5 with SLE in Mexicans: higher frequency of the risk haplotype and its homozygozity than Europeans.
[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 18843782] Different genetic effects of interferon regulatory factor 5 (IRF5) polymorphisms on systemic lupus erythematosus in a Korean population.
[PMID 19116668] Validating discovered Cis-acting regulatory genetic variants: application of an allele specific expression approach to HapMap populations.
[PMID 19838195] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic 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 20639879] Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.
[PMID 21952918] Evidence for gene-gene epistatic interactions among susceptibility loci for 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 25036352] Association between IRF5 polymorphisms and autoimmune diseases: a meta-analysis
[PMID 24116155] Two functional variants of IRF5 influence the development of macular edema in patients with non-anterior uveitis
| ClinVar | |
|---|---|
| Risk | rs2070197(C;C) |
| Alt | rs2070197(C;C) |
| Reference | Rs2070197(T;T) |
| Significance | Other |
| Disease | Systemic lupus erythematosus |
| Variation | info |
| Gene | IRF5 |
| CLNDBN | Systemic lupus erythematosus, association wit 10 |
| Reversed | 0 |
| HGVS | NC_000007.13:g.128589000T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003567.2, |
[PMID 26294277] Genetic association and interaction between the IRF5 and TYK2 genes and systemic lupus erythematosus in the Han Chinese population
