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rs137852507

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852507(A;T)
Make rs137852507(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71110603
GeneIL2RG
is asnp
is mentioned by
dbSNPrs137852507
ebirs137852507
HLIrs137852507
Exacrs137852507
Varsomers137852507
Maprs137852507
PheGenIrs137852507
hapmaprs137852507
1000 genomesrs137852507
hgdprs137852507
ensemblrs137852507
gopubmedrs137852507
geneviewrs137852507
scholarrs137852507
googlers137852507
pharmgkbrs137852507
gwascentralrs137852507
openSNPrs137852507
23andMers137852507
23andMe allrs137852507
SNP Nexus

SNPshotrs137852507
SNPdbers137852507
MSV3drs137852507
GWAS Ctlgrs137852507
Max Magnitude0
OMIM308380
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852507(C,T;C,T)
Alt rs137852507(C,T;C,T)
Reference rs137852507(A;A)
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.70330453T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010699.4,