rs397508126
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;TCT) | 5 | Romano-Ward Long QT Syndrome |
| (TCT;TCT) | 0 | common in clinvar |
| Make rs397508126(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2572889 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397508126 |
| dbSNP (classic) | rs397508126 |
| ClinGen | rs397508126 |
| ebi | rs397508126 |
| HLI | rs397508126 |
| Exac | rs397508126 |
| Gnomad | rs397508126 |
| Varsome | rs397508126 |
| LitVar | rs397508126 |
| Map | rs397508126 |
| PheGenI | rs397508126 |
| Biobank | rs397508126 |
| 1000 genomes | rs397508126 |
| hgdp | rs397508126 |
| ensembl | rs397508126 |
| geneview | rs397508126 |
| scholar | rs397508126 |
| rs397508126 | |
| pharmgkb | rs397508126 |
| gwascentral | rs397508126 |
| openSNP | rs397508126 |
| 23andMe | rs397508126 |
| SNPshot | rs397508126 |
| SNPdbe | rs397508126 |
| MSV3d | rs397508126 |
| GWAS Ctlg | rs397508126 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs397508126(-;-) |
| Alt | rs397508126(-;-) |
| Reference | Rs397508126(TCT;TCT) |
| Significance | Pathogenic |
| Disease | Long QT syndrome Long QT syndrome 1 |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome, LQT1 subtype Long QT syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2594119_2594121delTCT |
| CLNSRC | ClinVar |
| CLNACC | RCV000046138.2, RCV000239632.1, |
