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rs34844088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34844088(C;T)
Make rs34844088(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position18072187
GeneIL12RB1
is asnp
is mentioned by
dbSNPrs34844088
ebirs34844088
HLIrs34844088
Exacrs34844088
Varsomers34844088
Maprs34844088
PheGenIrs34844088
hapmaprs34844088
1000 genomesrs34844088
hgdprs34844088
ensemblrs34844088
gopubmedrs34844088
geneviewrs34844088
scholarrs34844088
googlers34844088
pharmgkbrs34844088
gwascentralrs34844088
openSNPrs34844088
23andMers34844088
23andMe allrs34844088
SNP Nexus

SNPshotrs34844088
SNPdbers34844088
MSV3drs34844088
GWAS Ctlgrs34844088
Max Magnitude0
Venter snp
Source plos
Gene IL12RB1
allele T
frequency
sift TOLERATED
HuRef 1103691104444
Disease Association Defects in IL12RB1 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.