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rs193922346

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922346(G;T)
Make rs193922346(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71110689
GeneIL2RG
is asnp
is mentioned by
dbSNPrs193922346
ebirs193922346
HLIrs193922346
Exacrs193922346
Varsomers193922346
Maprs193922346
PheGenIrs193922346
hapmaprs193922346
1000 genomesrs193922346
hgdprs193922346
ensemblrs193922346
gopubmedrs193922346
geneviewrs193922346
scholarrs193922346
googlers193922346
pharmgkbrs193922346
gwascentralrs193922346
openSNPrs193922346
23andMers193922346
23andMe allrs193922346
SNP Nexus

SNPshotrs193922346
SNPdbers193922346
MSV3drs193922346
GWAS Ctlgrs193922346
Max Magnitude0
ClinVar
Risk rs193922346(T;T)
Alt rs193922346(T;T)
Reference rs193922346(G;G)
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.70330539C>A
CLNSRC ClinVar
CLNACC RCV000030053.1,