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rs587776729

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776729(-;-)
Make rs587776729(-;CCAATGCTG)
Make rs587776729(CCAATGCTG;CCAATGCTG)
ReferenceGRCh38 38.1/142
ChromosomeX
Position71109282
GeneIL2RG
is asnp
is mentioned by
dbSNPrs587776729
ebirs587776729
HLIrs587776729
Exacrs587776729
Varsomers587776729
Maprs587776729
PheGenIrs587776729
hapmaprs587776729
1000 genomesrs587776729
hgdprs587776729
ensemblrs587776729
gopubmedrs587776729
geneviewrs587776729
scholarrs587776729
googlers587776729
pharmgkbrs587776729
gwascentralrs587776729
openSNPrs587776729
23andMers587776729
23andMe allrs587776729
SNP Nexus

SNPshotrs587776729
SNPdbers587776729
MSV3drs587776729
GWAS Ctlgrs587776729
Max Magnitude0
ClinVar
Risk rs587776729(CCAATGCTG;CCAATGCTG)
Alt rs587776729(CCAATGCTG;CCAATGCTG)
Reference rs587776729(;)
Significance Pathogenic
Disease X-linked severe combined immunodeficiency
Variation info
Gene IL2RG
CLNDBN X-linked severe combined immunodeficiency
Reversed 0
HGVS NC_000023.10:g.70329124_70329132dupCCAATGCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000010707.4,