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rs111033617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033617(A;A)
Make rs111033617(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71108599
GeneCXorf65, IL2RG
is asnp
is mentioned by
dbSNPrs111033617
ebirs111033617
HLIrs111033617
Exacrs111033617
Varsomers111033617
Maprs111033617
PheGenIrs111033617
hapmaprs111033617
1000 genomesrs111033617
hgdprs111033617
ensemblrs111033617
gopubmedrs111033617
geneviewrs111033617
scholarrs111033617
googlers111033617
pharmgkbrs111033617
gwascentralrs111033617
openSNPrs111033617
23andMers111033617
23andMe allrs111033617
SNP Nexus

SNPshotrs111033617
SNPdbers111033617
MSV3drs111033617
GWAS Ctlgrs111033617
Max Magnitude0
OMIM308380
Desc
Variant0011
Relatedalso
ClinVar
Risk rs111033617(A;A)
Alt rs111033617(A;A)
Reference rs111033617(G;G)
Significance Pathogenic
Disease X-linked severe combined immunodeficiency
Variation info
Gene CXorf65 IL2RG
CLNDBN X-linked severe combined immunodeficiency
Reversed 1
HGVS NC_000023.10:g.70328449C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010709.4,