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rs111033622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033622(C;C)
Make rs111033622(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71110615
GeneIL2RG
is asnp
is mentioned by
dbSNPrs111033622
ebirs111033622
HLIrs111033622
Exacrs111033622
Varsomers111033622
Maprs111033622
PheGenIrs111033622
hapmaprs111033622
1000 genomesrs111033622
hgdprs111033622
ensemblrs111033622
gopubmedrs111033622
geneviewrs111033622
scholarrs111033622
googlers111033622
pharmgkbrs111033622
gwascentralrs111033622
openSNPrs111033622
23andMers111033622
23andMe allrs111033622
SNP Nexus

SNPshotrs111033622
SNPdbers111033622
MSV3drs111033622
GWAS Ctlgrs111033622
Max Magnitude0
OMIM308380
Desc
Variant0010
Relatedalso
ClinVar
Risk rs111033622(C;C)
Alt rs111033622(C;C)
Reference rs111033622(T;T)
Significance Pathogenic
Disease X-linked severe combined immunodeficiency
Variation info
Gene IL2RG
CLNDBN X-linked severe combined immunodeficiency
Reversed 1
HGVS NC_000023.10:g.70330465A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010708.2,