{{Rsnum
|rsid=5029939
|Gene=TNFAIP3
|Chromosome=6
|position=137874586
|Orientation=plus
|GMAF=0.123
|Gene_s=TNFAIP3
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|effect1=
|effect2=
|effect3=
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 94.6 | 5.4 | 0.0
| HCB | 88.3 | 11.7 | 0.0
| JPT | 81.2 | 16.1 | 2.7
| YRI | 30.6 | 48.3 | 21.1
| ASW | 57.9 | 29.8 | 12.3
| CHB | 88.3 | 11.7 | 0.0
| CHD | 87.2 | 11.9 | 0.9
| GIH | 93.1 | 6.9 | 0.0
| LWK | 36.4 | 58.2 | 5.5
| MEX | 96.6 | 3.4 | 0.0
| MKK | 41.9 | 45.8 | 12.3
| TSI | 92.2 | 7.8 | 0.0
| HapMapRevision=28
}}An association was found between Systemic lupus erythematosus ([[SLE]]) and [[rs5029939]] (meta-analysis p = 2.89 x 10(-12), odds ratio 2.29).{{PMID|18677312}}

{{ neighbor
| rsid = 2230926
| distance = 343
}}

{{GWAS Summary
|SNP=rs5029939
|PubMedID=18677312
|Condition=Systemic lupus erythematosus
|Gene=TNFAIP3
|Risk Allele=
|pValue=3.00E-012
|OR=2.28
|95CI=
}}

{{PMID Auto
|PMID=19387456
|Title=Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations
|OA=1
}}

{{omim
|desc=SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 13; SLEB13
|id=612378
|rsnum=5029939
}}

{{PharmGKB
|RSID=rs5029939
|Name_s=
|Gene_s=TNFAIP3
|Feature=
|Evidence=PubMed ID:18677312; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus (Initial Sample Size: 431 cases, 2,155 controls; Replication Sample Size: 740 trios). This variant is associated with Systemic lupus erythematosus.
|Drugs=
|Drug Classes=
|Diseases=Lupus Erythematosus, Systemic
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356452
}}

{{PMID Auto GWAS
|PMID=19165918
|Trait=Systemic lupus erythematosus
|Title=PubMedID=18677312: cannot get document summary
|RiskAllele=
|Pval=3E-12
|OR=2.28
|ORtxt=[NR]
|OA=1
}}
{{PMID Auto
|PMID=20511617
|Title=Association of the TNFAIP3 rs5029939 variant with systemic sclerosis in the European Caucasian population
}}

{{PharmGKB
|RSID=rs5029939
|Name_s=
|Gene_s=TNFAIP3
|Feature=
|Evidence=PubMed ID:18677312
|Annotation=A genome-wide association scan and replication study found an association between this variant in the TNFAIP3 gene and systemic lupus erythematosus.
|Drugs=
|Drug Classes=
|Diseases=Lupus Erythematosus, Systemic
|Curation Level=Curated
|PharmGKB Accession ID=PA162355590
}}

{{PMID Auto
|PMID=21740805
|Title=Variants of tumor necrosis factor-induced protein 3 gene are associated with left ventricular hypertrophy in hypertensive patients
}}

{{PMID Auto
|PMID=19169254
|Title=Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19849816
|Title=Genetics of rheumatic disease.
|OA=1
}}

{{PMID Auto
|PMID=20617138
|Title=Association of TNFAIP3 polymorphism with susceptibility to systemic lupus erythematosus in a Japanese population.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs5029939
|overall_frequency_n=21
|overall_frequency_d=128
|overall_frequency=0.164062
|n_genomes=14
|n_genomes_annotated=0
|n_haplomes=18
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=22488580
|Title=Brief report: candidate gene study in systemic sclerosis identifies a rare and functional variant of the TNFAIP3 locus as a risk factor for polyautoimmunity.
}}

{{PMID Auto
|PMID=22924496
|Title=Associations between TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | HumanOmni1Quad}}