Have questions? Visit https://www.reddit.com/r/SNPedia

rs3213119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in complete genomics
Make rs3213119(G;T)
Make rs3213119(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position159316780
GeneIL12B
is asnp
is mentioned by
dbSNPrs3213119
ebirs3213119
HLIrs3213119
Exacrs3213119
Varsomers3213119
Maprs3213119
PheGenIrs3213119
hapmaprs3213119
1000 genomesrs3213119
hgdprs3213119
ensemblrs3213119
gopubmedrs3213119
geneviewrs3213119
scholarrs3213119
googlers3213119
pharmgkbrs3213119
gwascentralrs3213119
openSNPrs3213119
23andMers3213119
23andMe allrs3213119
SNP Nexus

SNPshotrs3213119
SNPdbers3213119
MSV3drs3213119
GWAS Ctlgrs3213119
GMAF0.01699
Max Magnitude0
? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene IL12B
allele A
frequency 0.009
sift TOLERATED
HuRef 1103654271819
Disease Association 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.



Neighborrs3212227
Distance838


[PMID 22739501] Resequencing of the IL12B gene in psoriasis patients with the rs6887695/rs3212227 risk genotypes


[PMID 16600026OA-icon.png] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.


[PMID 17236132OA-icon.png] A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.


[PMID 18045485OA-icon.png] The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.


[PMID 20350312OA-icon.png] Polymorphisms in genes of interleukin 12 and its receptors and their association with protection against severe malarial anaemia in children in western Kenya.


GET Evidence
IL12B-V298F
aa_change Val298Phe
aa_change_short V298F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0224949
summary



[PMID 25848976OA-icon.png] Association of Common Genetic Polymorphisms with Melanoma Patient IL-12p40 Blood Levels, Risk and Outcomes