rs794728568
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs794728568(G;T) |
| Make rs794728568(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 2570707 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794728568 |
| dbSNP (classic) | rs794728568 |
| ClinGen | rs794728568 |
| ebi | rs794728568 |
| HLI | rs794728568 |
| Exac | rs794728568 |
| Gnomad | rs794728568 |
| Varsome | rs794728568 |
| LitVar | rs794728568 |
| Map | rs794728568 |
| PheGenI | rs794728568 |
| Biobank | rs794728568 |
| 1000 genomes | rs794728568 |
| hgdp | rs794728568 |
| ensembl | rs794728568 |
| geneview | rs794728568 |
| scholar | rs794728568 |
| rs794728568 | |
| pharmgkb | rs794728568 |
| gwascentral | rs794728568 |
| openSNP | rs794728568 |
| 23andMe | rs794728568 |
| SNPshot | rs794728568 |
| SNPdbe | rs794728568 |
| MSV3d | rs794728568 |
| GWAS Ctlg | rs794728568 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs794728568(A;A) rs794728568(T;T) |
| Alt | rs794728568(A;A) rs794728568(T;T) |
| Reference | Rs794728568(G;G) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 1 not provided |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome 1 not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2591937G>A; NC_000011.9:g.2591937G>T |
| CLNSRC | |
| CLNACC | RCV000234798.2, RCV000182298.1, |
