rs193922348
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs193922348(C;C) |
Make rs193922348(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 71110295 |
Gene | IL2RG |
is a | snp |
is | mentioned by |
dbSNP | rs193922348 |
dbSNP (classic) | rs193922348 |
ClinGen | rs193922348 |
ebi | rs193922348 |
HLI | rs193922348 |
Exac | rs193922348 |
Gnomad | rs193922348 |
Varsome | rs193922348 |
LitVar | rs193922348 |
Map | rs193922348 |
PheGenI | rs193922348 |
Biobank | rs193922348 |
1000 genomes | rs193922348 |
hgdp | rs193922348 |
ensembl | rs193922348 |
geneview | rs193922348 |
scholar | rs193922348 |
rs193922348 | |
pharmgkb | rs193922348 |
gwascentral | rs193922348 |
openSNP | rs193922348 |
23andMe | rs193922348 |
SNPshot | rs193922348 |
SNPdbe | rs193922348 |
MSV3d | rs193922348 |
GWAS Ctlg | rs193922348 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922348(C;C) |
Alt | rs193922348(C;C) |
Reference | Rs193922348(T;T) |
Significance | Other |
Disease | X-linked severe combined immunodeficiency |
Variation | info |
Gene | IL2RG |
CLNDBN | X-linked severe combined immunodeficiency |
Reversed | 1 |
HGVS | NC_000023.10:g.70330145A>G |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030055.2, |
[PMID 8557662] Signal transduction pathway of interleukin-4 and interleukin-13 in human B cells derived from X-linked severe combined immunodeficiency patients.
[PMID 8961626] IL2RGbase: a database of gamma c-chain defects causing human X-SCID.
[PMID 11129345] Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).