rs193922347

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs193922347(A;G)

Make rs193922347(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

71110644

Gene

IL2RG

is a	snp
is	mentioned by
dbSNP	rs193922347
dbSNP (classic)	rs193922347
ClinGen	rs193922347
ebi	rs193922347
HLI	rs193922347
Exac	rs193922347
Gnomad	rs193922347
Varsome	rs193922347
LitVar	rs193922347
Map	rs193922347
PheGenI	rs193922347
Biobank	rs193922347
1000 genomes	rs193922347
hgdp	rs193922347
ensembl	rs193922347
geneview	rs193922347
scholar	rs193922347
google	rs193922347
pharmgkb	rs193922347
gwascentral	rs193922347
openSNP	rs193922347
23andMe	rs193922347
SNPshot	rs193922347
SNPdbe	rs193922347
MSV3d	rs193922347
GWAS Ctlg	rs193922347

Max Magnitude

0

ClinVar
Risk	rs193922347(G;G)
Alt	rs193922347(G;G)
Reference	Rs193922347(A;A)
Significance	Probable-Pathogenic
Disease	X-linked severe combined immunodeficiency
Variation	info
Gene	IL2RG
CLNDBN	X-linked severe combined immunodeficiency
Reversed	1
HGVS	NC_000023.10:g.70330494T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000030054.1,

[PMID 8961626] IL2RGbase: a database of gamma c-chain defects causing human X-SCID.

[PMID 10444186] Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots.