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rs879253742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs879253742(C;C)
Make rs879253742(C;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71111493
GeneIL2RG
is asnp
is mentioned by
dbSNPrs879253742
dbSNP (classic)rs879253742
ClinGenrs879253742
ebirs879253742
HLIrs879253742
Exacrs879253742
Gnomadrs879253742
Varsomers879253742
LitVarrs879253742
Maprs879253742
PheGenIrs879253742
Biobankrs879253742
1000 genomesrs879253742
hgdprs879253742
ensemblrs879253742
geneviewrs879253742
scholarrs879253742
googlers879253742
pharmgkbrs879253742
gwascentralrs879253742
openSNPrs879253742
23andMers879253742
SNPshotrs879253742
SNPdbers879253742
MSV3drs879253742
GWAS Ctlgrs879253742
Max Magnitude0
ClinVar
Risk rs879253742(C;C)
Alt rs879253742(C;C)
Reference Rs879253742(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.70331343A>G
CLNSRC
CLNACC RCV000234914.1,