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rs193922362

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922362(C;T)
Make rs193922362(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position17837148
GeneJAK3
is asnp
is mentioned by
dbSNPrs193922362
ebirs193922362
HLIrs193922362
Exacrs193922362
Varsomers193922362
Maprs193922362
PheGenIrs193922362
hapmaprs193922362
1000 genomesrs193922362
hgdprs193922362
ensemblrs193922362
gopubmedrs193922362
geneviewrs193922362
scholarrs193922362
googlers193922362
pharmgkbrs193922362
gwascentralrs193922362
openSNPrs193922362
23andMers193922362
23andMe allrs193922362
SNP Nexus

SNPshotrs193922362
SNPdbers193922362
MSV3drs193922362
GWAS Ctlgrs193922362
Max Magnitude0
ClinVar
Risk rs193922362(T;T)
Alt rs193922362(T;T)
Reference rs193922362(C;C)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency disease
Variation info
Gene JAK3
CLNDBN Severe combined immunodeficiency disease
Reversed 1
HGVS NC_000019.9:g.17947957G>A
CLNSRC ClinVar
CLNACC RCV000030088.1,


[PMID 109001] Nonenteric gram negatives, 1976.


[PMID 9354668] Structural and functional basis for JAK3-deficient severe combined immunodeficiency.


[PMID 10982185] Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.


[PMID 11668610] Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.


[PMID 14615376] Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.


[PMID 17433830] A novel mutation of intron 22 in Janus kinase 3-deficient severe combined immunodeficiency.