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rs193922350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922350(A;A)
Make rs193922350(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71109275
GeneIL2RG
is asnp
is mentioned by
dbSNPrs193922350
ebirs193922350
HLIrs193922350
Exacrs193922350
Varsomers193922350
Maprs193922350
PheGenIrs193922350
hapmaprs193922350
1000 genomesrs193922350
hgdprs193922350
ensemblrs193922350
gopubmedrs193922350
geneviewrs193922350
scholarrs193922350
googlers193922350
pharmgkbrs193922350
gwascentralrs193922350
openSNPrs193922350
23andMers193922350
23andMe allrs193922350
SNP Nexus

SNPshotrs193922350
SNPdbers193922350
MSV3drs193922350
GWAS Ctlgrs193922350
Max Magnitude0
ClinVar
Risk rs193922350(A;A)
Alt rs193922350(A;A)
Reference rs193922350(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.70329125C>T
CLNSRC ClinVar
CLNACC RCV000030057.1,