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rs193922364

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs193922364(-;-)
Make rs193922364(-;CT)
ReferenceGRCh38 38.1/141
Chromosome19
Position17842498
GeneJAK3
is asnp
is mentioned by
dbSNPrs193922364
ebirs193922364
HLIrs193922364
Exacrs193922364
Varsomers193922364
Maprs193922364
PheGenIrs193922364
hapmaprs193922364
1000 genomesrs193922364
hgdprs193922364
ensemblrs193922364
gopubmedrs193922364
geneviewrs193922364
scholarrs193922364
googlers193922364
pharmgkbrs193922364
gwascentralrs193922364
openSNPrs193922364
23andMers193922364
23andMe allrs193922364
SNP Nexus

SNPshotrs193922364
SNPdbers193922364
MSV3drs193922364
GWAS Ctlgrs193922364
Max Magnitude0
ClinVar
Risk rs193922364(;)
Alt rs193922364(;)
Reference rs193922364(CT;CT)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency disease
Variation info
Gene JAK3
CLNDBN Severe combined immunodeficiency disease
Reversed 1
HGVS NC_000019.9:g.17953307_17953308delAG
CLNSRC ClinVar LabCorp
CLNACC RCV000030095.1,