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rs193922347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922347(A;G)
Make rs193922347(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71110644
GeneIL2RG
is asnp
is mentioned by
dbSNPrs193922347
ebirs193922347
HLIrs193922347
Exacrs193922347
Varsomers193922347
Maprs193922347
PheGenIrs193922347
hapmaprs193922347
1000 genomesrs193922347
hgdprs193922347
ensemblrs193922347
gopubmedrs193922347
geneviewrs193922347
scholarrs193922347
googlers193922347
pharmgkbrs193922347
gwascentralrs193922347
openSNPrs193922347
23andMers193922347
23andMe allrs193922347
SNP Nexus

SNPshotrs193922347
SNPdbers193922347
MSV3drs193922347
GWAS Ctlgrs193922347
Max Magnitude0
ClinVar
Risk rs193922347(G;G)
Alt rs193922347(G;G)
Reference rs193922347(A;A)
Significance Probable-Pathogenic
Disease X-linked severe combined immunodeficiency
Variation info
Gene IL2RG
CLNDBN X-linked severe combined immunodeficiency
Reversed 1
HGVS NC_000023.10:g.70330494T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000030054.1,


[PMID 8961626] IL2RGbase: a database of gamma c-chain defects causing human X-SCID.


[PMID 10444186] Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots.