rs199472762
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199472762(C;T) |
| Make rs199472762(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2583540 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199472762 |
| dbSNP (classic) | rs199472762 |
| ClinGen | rs199472762 |
| ebi | rs199472762 |
| HLI | rs199472762 |
| Exac | rs199472762 |
| Gnomad | rs199472762 |
| Varsome | rs199472762 |
| LitVar | rs199472762 |
| Map | rs199472762 |
| PheGenI | rs199472762 |
| Biobank | rs199472762 |
| 1000 genomes | rs199472762 |
| hgdp | rs199472762 |
| ensembl | rs199472762 |
| geneview | rs199472762 |
| scholar | rs199472762 |
| rs199472762 | |
| pharmgkb | rs199472762 |
| gwascentral | rs199472762 |
| openSNP | rs199472762 |
| 23andMe | rs199472762 |
| SNPshot | rs199472762 |
| SNPdbe | rs199472762 |
| MSV3d | rs199472762 |
| GWAS Ctlg | rs199472762 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199472762(T;T) |
| Alt | rs199472762(T;T) |
| Reference | Rs199472762(C;C) |
| Significance | Untested |
| Disease | Long QT syndrome Congenital long QT syndrome |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome, LQT1 subtype Congenital long QT syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2604770C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000045935.2, RCV000057530.3, |
[PMID 15466642] Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
[PMID 15511625] Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
