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

rs193922361

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922361(C;T)
Make rs193922361(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position17837171
GeneJAK3
is asnp
is mentioned by
dbSNPrs193922361
ebirs193922361
HLIrs193922361
Exacrs193922361
Varsomers193922361
Maprs193922361
PheGenIrs193922361
hapmaprs193922361
1000 genomesrs193922361
hgdprs193922361
ensemblrs193922361
gopubmedrs193922361
geneviewrs193922361
scholarrs193922361
googlers193922361
pharmgkbrs193922361
gwascentralrs193922361
openSNPrs193922361
23andMers193922361
23andMe allrs193922361
SNP Nexus

SNPshotrs193922361
SNPdbers193922361
MSV3drs193922361
GWAS Ctlgrs193922361
Max Magnitude0
ClinVar
Risk rs193922361(T;T)
Alt rs193922361(T;T)
Reference rs193922361(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.17947980G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030087.1,


[PMID 109001] Nonenteric gram negatives, 1976.


[PMID 9753072] Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.


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


[PMID 11213805] Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.


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


[PMID 21184155] Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.