rs193922721
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs193922721(A;G) |
| Make rs193922721(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 42322413 |
| Gene | STAT3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922721 |
| dbSNP (classic) | rs193922721 |
| ClinGen | rs193922721 |
| ebi | rs193922721 |
| HLI | rs193922721 |
| Exac | rs193922721 |
| Gnomad | rs193922721 |
| Varsome | rs193922721 |
| LitVar | rs193922721 |
| Map | rs193922721 |
| PheGenI | rs193922721 |
| Biobank | rs193922721 |
| 1000 genomes | rs193922721 |
| hgdp | rs193922721 |
| ensembl | rs193922721 |
| geneview | rs193922721 |
| scholar | rs193922721 |
| rs193922721 | |
| pharmgkb | rs193922721 |
| gwascentral | rs193922721 |
| openSNP | rs193922721 |
| 23andMe | rs193922721 |
| SNPshot | rs193922721 |
| SNPdbe | rs193922721 |
| MSV3d | rs193922721 |
| GWAS Ctlg | rs193922721 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922721(G;G) |
| Alt | rs193922721(G;G) |
| Reference | Rs193922721(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Hyperimmunoglobulin E syndrome |
| Variation | info |
| Gene | STAT3 |
| CLNDBN | Hyperimmunoglobulin E syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.40474431T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000030470.1, |
[PMID 19577] Effect of a second solubilizate on the partition coefficient of drugs in micellar solution and their permeation rate across an artificial membrane.
[PMID 17881745] STAT3 mutations in the hyper-IgE syndrome.
[PMID 18706697] Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.
[PMID 18978467] Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3.
[PMID 20159255
] Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
[PMID 21107604] Destructive pulmonary staphylococcal infection in a boy with hyper-IgE syndrome: a novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene (p.Y657S).
