rs193922716
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193922716(C;T) |
| Make rs193922716(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 42333719 |
| Gene | STAT3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922716 |
| dbSNP (classic) | rs193922716 |
| ClinGen | rs193922716 |
| ebi | rs193922716 |
| HLI | rs193922716 |
| Exac | rs193922716 |
| Gnomad | rs193922716 |
| Varsome | rs193922716 |
| LitVar | rs193922716 |
| Map | rs193922716 |
| PheGenI | rs193922716 |
| Biobank | rs193922716 |
| 1000 genomes | rs193922716 |
| hgdp | rs193922716 |
| ensembl | rs193922716 |
| geneview | rs193922716 |
| scholar | rs193922716 |
| rs193922716 | |
| pharmgkb | rs193922716 |
| gwascentral | rs193922716 |
| openSNP | rs193922716 |
| 23andMe | rs193922716 |
| SNPshot | rs193922716 |
| SNPdbe | rs193922716 |
| MSV3d | rs193922716 |
| GWAS Ctlg | rs193922716 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922716(T;T) |
| Alt | rs193922716(T;T) |
| Reference | Rs193922716(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Hyperimmunoglobulin E syndrome not provided |
| Variation | info |
| Gene | STAT3 |
| CLNDBN | Hyperimmunoglobulin E syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.40485737G>A |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030463.1, RCV000427432.1, |
[PMID 18602572
] Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.
[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.
