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rs111033620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033620(A;A)
Make rs111033620(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71110617
GeneIL2RG
is asnp
is mentioned by
dbSNPrs111033620
ebirs111033620
HLIrs111033620
Exacrs111033620
Varsomers111033620
Maprs111033620
PheGenIrs111033620
hapmaprs111033620
1000 genomesrs111033620
hgdprs111033620
ensemblrs111033620
gopubmedrs111033620
geneviewrs111033620
scholarrs111033620
googlers111033620
pharmgkbrs111033620
gwascentralrs111033620
openSNPrs111033620
23andMers111033620
23andMe allrs111033620
SNP Nexus

SNPshotrs111033620
SNPdbers111033620
MSV3drs111033620
GWAS Ctlgrs111033620
Max Magnitude0
OMIM308380
Desc
Variant0005
Relatedalso
ClinVar
Risk rs111033620(A;A)
Alt rs111033620(A;A)
Reference rs111033620(G;G)
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.70330467C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010703.4,