rs779383393
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 5 | Romano-Ward Long QT Syndrome |
| (T;T) | 0 | common in clinvar |
| Make rs779383393(C;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 11 |
| Position | 2585230 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs779383393 |
| dbSNP (classic) | rs779383393 |
| ClinGen | rs779383393 |
| ebi | rs779383393 |
| HLI | rs779383393 |
| Exac | rs779383393 |
| Gnomad | rs779383393 |
| Varsome | rs779383393 |
| LitVar | rs779383393 |
| Map | rs779383393 |
| PheGenI | rs779383393 |
| Biobank | rs779383393 |
| 1000 genomes | rs779383393 |
| hgdp | rs779383393 |
| ensembl | rs779383393 |
| geneview | rs779383393 |
| scholar | rs779383393 |
| rs779383393 | |
| pharmgkb | rs779383393 |
| gwascentral | rs779383393 |
| openSNP | rs779383393 |
| 23andMe | rs779383393 |
| SNPshot | rs779383393 |
| SNPdbe | rs779383393 |
| MSV3d | rs779383393 |
| GWAS Ctlg | rs779383393 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs779383393(C;C) |
| Alt | rs779383393(C;C) |
| Reference | Rs779383393(T;T) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 1 |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2606460T>C |
| CLNSRC | |
| CLNACC | RCV000234806.2, |
