rs193922365
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193922365(C;T) |
| Make rs193922365(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2572970 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922365 |
| dbSNP (classic) | rs193922365 |
| ClinGen | rs193922365 |
| ebi | rs193922365 |
| HLI | rs193922365 |
| Exac | rs193922365 |
| Gnomad | rs193922365 |
| Varsome | rs193922365 |
| LitVar | rs193922365 |
| Map | rs193922365 |
| PheGenI | rs193922365 |
| Biobank | rs193922365 |
| 1000 genomes | rs193922365 |
| hgdp | rs193922365 |
| ensembl | rs193922365 |
| geneview | rs193922365 |
| scholar | rs193922365 |
| rs193922365 | |
| pharmgkb | rs193922365 |
| gwascentral | rs193922365 |
| openSNP | rs193922365 |
| 23andMe | rs193922365 |
| SNPshot | rs193922365 |
| SNPdbe | rs193922365 |
| MSV3d | rs193922365 |
| GWAS Ctlg | rs193922365 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922365(A;A) rs193922365(T;T) |
| Alt | rs193922365(A;A) rs193922365(T;T) |
| Reference | Rs193922365(C;C) |
| Significance | Pathogenic |
| Disease | Congenital long QT syndrome not provided Long QT syndrome |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Congenital long QT syndrome not provided Long QT syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2594200C>A; NC_000011.9:g.2594200C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000057791.3, RCV000182129.2, RCV000030111.1, RCV000057792.3, |
[PMID 20486] Early effects of hypervitaminosis A on gluconeogenic activity and amino acid metabolizing enzymes of rat liver.
[PMID 15466642] Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
[PMID 17905336] Long QT and Brugada syndrome gene mutations in New Zealand.
[PMID 19490272] Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.
[PMID 19808498
] Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
