{{Rsnum
|rsid=10488631
|Gene=TNPO3
|Chromosome=7
|position=128954129
|Orientation=plus
|GMAF=0.05418
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=TNPO3
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 1.8 | 21.2 | 77.0
| HCB | 0.0 | 0.7 | 99.3
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 1.8 | 98.2
| CHB | 0.0 | 0.7 | 99.3
| CHD | 0.0 | 0.0 | 0.0
| GIH | 3.0 | 25.7 | 71.3
| LWK | 0.0 | 1.8 | 98.2
| MEX | 0.0 | 31.0 | 69.0
| MKK | 0.0 | 8.3 | 91.7
| TSI | 2.0 | 13.7 | 84.3
| HapMapRevision=28
}}[[rs10488631]], a SNP located 3' of the [[IRF5]] gene, has been reported as a possibly causative SNP for systemic lupus erthymatosus ([[SLE]]), based on a study of ~700 Swedish patients. The risk allele is [[rs10488631]](C), with a reported odds ratio of 2.07 (CI: 1.63-2.62, p = 9x10e-10).{{PMID|18063667}}

The C allele is also associated with [[primary biliary cirrhosis]], with each C increasing the odds about 1.6 times. {{PMID|20639879|OA=1
}} {{PMID|20639880|OA=1
}}

Each C allele increases risk of [[Sjögren's syndrome]] by 1.7 times. {{PMID|20861858}} 

{{PMID|19092842}} [[SLE]] [[rs10488631]] and [[rs7582694]]

{{ neighbor
| rsid = 2280714
| distance = 542
}}

{{PMID Auto GWAS
|PMID=18204098
|Trait=Systemic lupus erythematosus
|Title=Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX
|RiskAllele=C
|Pval=1.9999999999999999E-11
|OR=NR
|ORtxt=NR
}}

{{PMID Auto GWAS
|PMID=19458352
|Trait=Primary biliary cirrhosis
|Title=Primary Biliary Cirrhosis Associated with HLA, IL12A, and IL12RB2 Variants
|RiskAllele=G
|Pval=2E-7
|OR=1.52
|ORtxt=[1.30-1.78]
|OA=1
}}

{{omim
|desc=INTERFERON REGULATORY FACTOR 5; IRF5
|id=607218
|rsnum=10488631
}}

{{PMID Auto GWAS
|PMID=20383147
|Trait=Systemic sclerosis
|Title=Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
|RiskAllele=C
|Pval=2E-13
|OR=1.50
|ORtxt=[1.35-1.67]
|OA=1
}}
{{PMID Auto
|PMID=19854706
|Title=Association of IRF5 polymorphisms with activation of the interferon alpha pathway
|OA=1
}}
{{PMID Auto GWAS
|PMID=20453842
|Trait=Rheumatoid arthritis
|Title=Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk lock
|RiskAllele=C
|Pval=4E-11
|OR=1.19
|ORtxt=[NR]
}}
{{PMID Auto GWAS
|PMID=20639880
|Trait=Primary biliary cirrhosis
|Title=Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis
|RiskAllele=C
|Pval=3E-10
|OR=1.63
|ORtxt=[NR]
|OA=1
}}

{{omim
|id=612251
|rsnum=10488631
}}

{{PMID Auto GWAS
|PMID=21408207
|Trait=None
|Title=Differential Genetic Associations for Systemic Lupus Erythematosus Based on Anti-dsDNA Autoantibody Production
|RiskAllele=C
|Pval=7E-18
|OR=1.9200
|ORtxt=[1.66-2.22]
|OA=1
}}

{{PMID Auto
|PMID=21807777
|Title=Preferential Association of Interferon Regulatory Factor 5 Gene Variants with Seronegative Rheumatoid Arthritis in 2 Swedish Case-Control Studies
}}

{{PMID Auto GWAS
|PMID=21779181
|Trait=None
|Title=Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
|RiskAllele=
|Pval=8E-7
|OR=1.6300
|ORtxt=[1.34-1.98]
|OA=1
}}

{{PMID Auto GWAS
|PMID=21750679
|Trait=None
|Title=Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
|RiskAllele=C
|Pval=4E-7
|OR=1.3500
|ORtxt=[1.20-1.51]
|OA=1
}}

{{PMID Auto
|PMID=22440820
|Title=IRF5 polymorphism predicts prognosis in patients with systemic sclerosis
|OA=1
}}

{{PMID Auto
|PMID=17412832
|Title=Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.
|OA=1
}}

{{PMID Auto
|PMID=17568788
|Title=Opposed independent effects and epistasis in the complex association of IRF5 to SLE.
}}

{{PMID Auto
|PMID=18285424
|Title=Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations.
|OA=1
}}

{{PMID Auto
|PMID=18579578
|Title=A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.
|OA=1
}}

{{PMID Auto
|PMID=18668568
|Title=Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients.
|OA=1
}}

{{PMID Auto
|PMID=18843782
|Title=Different genetic effects of interferon regulatory factor 5 (IRF5) polymorphisms on systemic lupus erythematosus in a Korean population.
}}

{{PMID Auto
|PMID=19109131
|Title=Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo.
|OA=1
}}

{{PMID Auto
|PMID=19838195
|Title=A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
|OA=1
}}

{{PMID Auto
|PMID=20112383
|Title=Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus.
|OA=1
}}

{{PMID Auto
|PMID=21379322
|Title=Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes.
|OA=1
}}

{{PMID Auto
|PMID=21506939
|Title=Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10488631
|overall_frequency_n=6
|overall_frequency_d=128
|overall_frequency=0.046875
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=4
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23372721
|Title=The Systemic Lupus Erythematosus IRF5 Risk Haplotype Is Associated with Systemic Sclerosis
|OA=1
}}

{{PMID Auto
|PMID=22328738
|Title=Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}