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rs193922349

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922349(C;C)
Make rs193922349(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71109323
GeneIL2RG
is asnp
is mentioned by
dbSNPrs193922349
ebirs193922349
HLIrs193922349
Exacrs193922349
Varsomers193922349
Maprs193922349
PheGenIrs193922349
hapmaprs193922349
1000 genomesrs193922349
hgdprs193922349
ensemblrs193922349
gopubmedrs193922349
geneviewrs193922349
scholarrs193922349
googlers193922349
pharmgkbrs193922349
gwascentralrs193922349
openSNPrs193922349
23andMers193922349
23andMe allrs193922349
SNP Nexus

SNPshotrs193922349
SNPdbers193922349
MSV3drs193922349
GWAS Ctlgrs193922349
Max Magnitude0
ClinVar
Risk rs193922349(C;C)
Alt rs193922349(C;C)
Reference rs193922349(T;T)
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.70329173A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000030056.1,