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rs111033621

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033621(A;A)
Make rs111033621(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71110292
GeneIL2RG
is asnp
is mentioned by
dbSNPrs111033621
ebirs111033621
HLIrs111033621
Exacrs111033621
Varsomers111033621
Maprs111033621
PheGenIrs111033621
hapmaprs111033621
1000 genomesrs111033621
hgdprs111033621
ensemblrs111033621
gopubmedrs111033621
geneviewrs111033621
scholarrs111033621
googlers111033621
pharmgkbrs111033621
gwascentralrs111033621
openSNPrs111033621
23andMers111033621
23andMe allrs111033621
SNP Nexus

SNPshotrs111033621
SNPdbers111033621
MSV3drs111033621
GWAS Ctlgrs111033621
Max Magnitude0
OMIM308380
Desc
Variant0007
Relatedalso
ClinVar
Risk rs111033621(A;A)
Alt rs111033621(A;A)
Reference rs111033621(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.70330142A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010705.3,