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rs2070197

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs2070197(C;C)
Make rs2070197(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position128948946
GeneIRF5
is asnp
is mentioned by
dbSNPrs2070197
ebirs2070197
HLIrs2070197
Exacrs2070197
Varsomers2070197
Maprs2070197
PheGenIrs2070197
hapmaprs2070197
1000 genomesrs2070197
hgdprs2070197
ensemblrs2070197
gopubmedrs2070197
geneviewrs2070197
scholarrs2070197
googlers2070197
pharmgkbrs2070197
gwascentralrs2070197
openSNPrs2070197
23andMers2070197
23andMe allrs2070197
SNP Nexus

SNPshotrs2070197
SNPdbers2070197
MSV3drs2070197
GWAS Ctlgrs2070197
GMAF0.05418
Max Magnitude0
OMIM612251
DescSYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10
Variant
Relatedalso
OMIM607218
DescINTERFERON REGULATORY FACTOR 5; IRF5
Variant
Relatedalso

[PMID 19644876] Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome

OMIM607218
Desc
Variant0004
Relatedalso


[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 17412832OA-icon.png] 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 18050197OA-icon.png] 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 18285424OA-icon.png] Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations.


[PMID 18668568OA-icon.png] 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 19116668OA-icon.png] Validating discovered Cis-acting regulatory genetic variants: application of an allele specific expression approach to HapMap populations.


[PMID 19838195OA-icon.png] 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 20639879OA-icon.png] Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.


[PMID 21952918OA-icon.png] 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 24116155OA-icon.png] 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