{{Rsnum
|rsid=3213119
|Gene=IL12B
|Chromosome=5
|position=159316780
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=T
|GMAF=0.01699
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=IL12B
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 98.4 | 1.6 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=3213119
|allele=A
|frequency=0.009
|uid=1103654271819
|type=heterozygous_SNP
|hugo=IL12B
|ensembl gene=ENSG00000113302
|ensembl transcript=ENST00000231228
|sift=TOLERATED
|disease=Defects in IL12B are a cause of mendelian susceptibility to mycobacterial disease (MSMD) (MIM:209950); also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental nontuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance.
}}

{{ neighbor
| rsid = 3212227
| distance = 838
}}

{{PMID Auto
|PMID=22739501
|Title=Resequencing of the IL12B gene in psoriasis patients with the rs6887695/rs3212227 risk genotypes
}}

{{PMID Auto
|PMID=16600026
|Title=Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
|OA=1
}}

{{PMID Auto
|PMID=17236132
|Title=A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.
|OA=1
}}

{{PMID Auto
|PMID=18045485
|Title=The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=20350312
|Title=Polymorphisms in genes of interleukin 12 and its receptors and their association with protection against severe malarial anaemia in children in western Kenya.
|OA=1
}}

{{GET Evidence
|gene=IL12B
|aa_change=Val298Phe
|aa_change_short=V298F
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3213119
|overall_frequency_n=242
|overall_frequency_d=10758
|overall_frequency=0.0224949
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.84
|genetests_testable=Y
|nblosum100=3
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}