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rs375947

From SNPedia

Orientationplus
Stabilizedplus
Make rs375947(A;A)
Make rs375947(A;G)
Make rs375947(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position18069641
GeneIL12RB1
is asnp
is mentioned by
dbSNPrs375947
ebirs375947
HLIrs375947
Exacrs375947
Varsomers375947
Maprs375947
PheGenIrs375947
hapmaprs375947
1000 genomesrs375947
hgdprs375947
ensemblrs375947
gopubmedrs375947
geneviewrs375947
scholarrs375947
googlers375947
pharmgkbrs375947
gwascentralrs375947
openSNPrs375947
23andMers375947
23andMe allrs375947
SNP Nexus

SNPshotrs375947
SNPdbers375947
MSV3drs375947
GWAS Ctlgrs375947
GMAF0.2893
Max Magnitude
? (A;A) (A;G) (G;G) 28

[PMID 20060272] Association of single nucleotide polymorphisms in the IL-12 (IL-12A and B) and IL-12 receptor (IL-12Rbeta1 and beta2) genes and gene-gene interactions with atopic dermatitis in Koreans


[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 19235914OA-icon.png] Genetic epistasis of IL23/IL17 pathway genes in Crohn's disease.


[PMID 19460324OA-icon.png] A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.


[PMID 20525402OA-icon.png] Analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis: a case-control association study.


[PMID 20811626OA-icon.png] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.


GET Evidence
IL12RB1-M365T
aa_change Met365Thr
aa_change_short M365T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.289407
summary



[PMID 23996684OA-icon.png] Cytokine and cytokine receptor genes of the adaptive immune response are differentially associated with breast cancer risk in American women of African and European ancestry