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rs869320658

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869320658(C;T)
Make rs869320658(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position71109315
GeneIL2RG
is asnp
is mentioned by
dbSNPrs869320658
ebirs869320658
HLIrs869320658
Exacrs869320658
Varsomers869320658
Maprs869320658
PheGenIrs869320658
hapmaprs869320658
1000 genomesrs869320658
hgdprs869320658
ensemblrs869320658
gopubmedrs869320658
geneviewrs869320658
scholarrs869320658
googlers869320658
pharmgkbrs869320658
gwascentralrs869320658
openSNPrs869320658
23andMers869320658
23andMe allrs869320658
SNP Nexus

SNPshotrs869320658
SNPdbers869320658
MSV3drs869320658
GWAS Ctlgrs869320658
Max Magnitude0
ClinVar
Risk rs869320658(T;T)
Alt rs869320658(T;T)
Reference rs869320658(C;C)
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.70329165G>A
CLNSRC
CLNACC RCV000210828.1,