Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852511(C;C)
Make rs137852511(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71110506
GeneIL2RG
is asnp
is mentioned by
dbSNPrs137852511
ebirs137852511
HLIrs137852511
Exacrs137852511
Varsomers137852511
Maprs137852511
PheGenIrs137852511
hapmaprs137852511
1000 genomesrs137852511
hgdprs137852511
ensemblrs137852511
gopubmedrs137852511
geneviewrs137852511
scholarrs137852511
googlers137852511
pharmgkbrs137852511
gwascentralrs137852511
openSNPrs137852511
23andMers137852511
23andMe allrs137852511
SNP Nexus

SNPshotrs137852511
SNPdbers137852511
MSV3drs137852511
GWAS Ctlgrs137852511
Max Magnitude0
OMIM308380
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137852511(C;C)
Alt rs137852511(C;C)
Reference rs137852511(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.70330356A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010711.2,