rs120074186
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 rs120074186(C;C) |
| Make rs120074186(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2572979 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074186 |
| dbSNP (classic) | rs120074186 |
| ClinGen | rs120074186 |
| ebi | rs120074186 |
| HLI | rs120074186 |
| Exac | rs120074186 |
| Gnomad | rs120074186 |
| Varsome | rs120074186 |
| LitVar | rs120074186 |
| Map | rs120074186 |
| PheGenI | rs120074186 |
| Biobank | rs120074186 |
| 1000 genomes | rs120074186 |
| hgdp | rs120074186 |
| ensembl | rs120074186 |
| geneview | rs120074186 |
| scholar | rs120074186 |
| rs120074186 | |
| pharmgkb | rs120074186 |
| gwascentral | rs120074186 |
| openSNP | rs120074186 |
| 23andMe | rs120074186 |
| SNPshot | rs120074186 |
| SNPdbe | rs120074186 |
| MSV3d | rs120074186 |
| GWAS Ctlg | rs120074186 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs120074186(A;A) rs120074186(C;C) rs120074186(T;T) |
| Alt | rs120074186(A;A) rs120074186(C;C) rs120074186(T;T) |
| Reference | Rs120074186(G;G) |
| Significance | Pathogenic |
| Disease | Long QT syndrome not provided Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome not provided Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2594209G>A; NC_000011.9:g.2594209G>C; NC_000011.9:g.2594209G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000046150.4, RCV000254708.2, RCV000003275.2, RCV000057796.3, RCV000182130.2, RCV000182131.3, |
[PMID 9781056] Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
[PMID 19716085
] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
