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).
