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rs111033618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033618(C;T)
Make rs111033618(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71109321
GeneIL2RG
is asnp
is mentioned by
dbSNPrs111033618
ebirs111033618
HLIrs111033618
Exacrs111033618
Varsomers111033618
Maprs111033618
PheGenIrs111033618
hapmaprs111033618
1000 genomesrs111033618
hgdprs111033618
ensemblrs111033618
gopubmedrs111033618
geneviewrs111033618
scholarrs111033618
googlers111033618
pharmgkbrs111033618
gwascentralrs111033618
openSNPrs111033618
23andMers111033618
23andMe allrs111033618
SNP Nexus

SNPshotrs111033618
SNPdbers111033618
MSV3drs111033618
GWAS Ctlgrs111033618
Max Magnitude0
OMIM308380
Desc
Variant0012
Relatedalso
ClinVar
Risk rs111033618(T;T)
Alt rs111033618(T;T)
Reference rs111033618(C;C)
Significance Pathogenic
Disease Combined immunodeficiency
Variation info
Gene IL2RG
CLNDBN Combined immunodeficiency, X-linked
Reversed 1
HGVS NC_000023.10:g.70329171G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010710.2,