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rs111033619

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033619(A;A)
Make rs111033619(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71110980
GeneIL2RG
is asnp
is mentioned by
dbSNPrs111033619
ebirs111033619
HLIrs111033619
Exacrs111033619
Varsomers111033619
Maprs111033619
PheGenIrs111033619
hapmaprs111033619
1000 genomesrs111033619
hgdprs111033619
ensemblrs111033619
gopubmedrs111033619
geneviewrs111033619
scholarrs111033619
googlers111033619
pharmgkbrs111033619
gwascentralrs111033619
openSNPrs111033619
23andMers111033619
23andMe allrs111033619
SNP Nexus

SNPshotrs111033619
SNPdbers111033619
MSV3drs111033619
GWAS Ctlgrs111033619
Max Magnitude0
OMIM308380
Desc
Variant0004
Relatedalso
ClinVar
Risk rs111033619(A;A)
Alt rs111033619(A;A)
Reference rs111033619(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.70330830A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010702.4,