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rs193922348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922348(C;C)
Make rs193922348(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71110295
GeneIL2RG
is asnp
is mentioned by
dbSNPrs193922348
ebirs193922348
HLIrs193922348
Exacrs193922348
Varsomers193922348
Maprs193922348
PheGenIrs193922348
hapmaprs193922348
1000 genomesrs193922348
hgdprs193922348
ensemblrs193922348
gopubmedrs193922348
geneviewrs193922348
scholarrs193922348
googlers193922348
pharmgkbrs193922348
gwascentralrs193922348
openSNPrs193922348
23andMers193922348
23andMe allrs193922348
SNP Nexus

SNPshotrs193922348
SNPdbers193922348
MSV3drs193922348
GWAS Ctlgrs193922348
Max Magnitude0
ClinVar
Risk rs193922348(C;C)
Alt rs193922348(C;C)
Reference rs193922348(T;T)
Significance Other
Disease X-linked severe combined immunodeficiency
Variation info
Gene IL2RG
CLNDBN X-linked severe combined immunodeficiency
Reversed 1
HGVS NC_000023.10:g.70330145A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000030055.2,


[PMID 8557662] Signal transduction pathway of interleukin-4 and interleukin-13 in human B cells derived from X-linked severe combined immunodeficiency patients.


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


[PMID 11129345] Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).