rs120074179
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 0 | common in clinvar |
| (G;T) | 5 | Romano-Ward Long QT Syndrome |
| Make rs120074179(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2572089 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074179 |
| dbSNP (classic) | rs120074179 |
| ClinGen | rs120074179 |
| ebi | rs120074179 |
| HLI | rs120074179 |
| Exac | rs120074179 |
| Gnomad | rs120074179 |
| Varsome | rs120074179 |
| LitVar | rs120074179 |
| Map | rs120074179 |
| PheGenI | rs120074179 |
| Biobank | rs120074179 |
| 1000 genomes | rs120074179 |
| hgdp | rs120074179 |
| ensembl | rs120074179 |
| geneview | rs120074179 |
| scholar | rs120074179 |
| rs120074179 | |
| pharmgkb | rs120074179 |
| gwascentral | rs120074179 |
| openSNP | rs120074179 |
| 23andMe | rs120074179 |
| SNPshot | rs120074179 |
| SNPdbe | rs120074179 |
| MSV3d | rs120074179 |
| GWAS Ctlg | rs120074179 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs120074179(A;A) rs120074179(C;C) rs120074179(T;T) |
| Alt | rs120074179(A;A) rs120074179(C;C) rs120074179(T;T) |
| Reference | Rs120074179(G;G) |
| Significance | Other |
| Disease | Long QT syndrome 1 Congenital long QT syndrome not provided Long QT syndrome Long QT syndrome |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome 1 Congenital long QT syndrome not provided Long QT syndrome Long QT syndrome, LQT1 subtype |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2593319G>A; NC_000011.9:g.2593319G>C; NC_000011.9:g.2593319G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003265.2, RCV000003296.2, RCV000057749.3, RCV000182109.3, RCV000190212.3, RCV000057750.3, RCV000046119.2, RCV000057751.3, |
[PMID 1475667] [Periodontitis and caries--"God's punishment"?].
[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
[PMID 9386136] KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 12820704] Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A.
[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
[PMID 16414944] Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
