rs74315448
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs74315448(C;C) |
| Make rs74315448(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 34370648 |
| Gene | KCNE2, LOC105372791 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315448 |
| dbSNP (classic) | rs74315448 |
| ClinGen | rs74315448 |
| ebi | rs74315448 |
| HLI | rs74315448 |
| Exac | rs74315448 |
| Gnomad | rs74315448 |
| Varsome | rs74315448 |
| LitVar | rs74315448 |
| Map | rs74315448 |
| PheGenI | rs74315448 |
| Biobank | rs74315448 |
| 1000 genomes | rs74315448 |
| hgdp | rs74315448 |
| ensembl | rs74315448 |
| geneview | rs74315448 |
| scholar | rs74315448 |
| rs74315448 | |
| pharmgkb | rs74315448 |
| gwascentral | rs74315448 |
| openSNP | rs74315448 |
| 23andMe | rs74315448 |
| SNPshot | rs74315448 |
| SNPdbe | rs74315448 |
| MSV3d | rs74315448 |
| GWAS Ctlg | rs74315448 |
| GMAF | 0.005051 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs74315448(C;C) |
| Alt | rs74315448(C;C) |
| Reference | Rs74315448(T;T) |
| Significance | Other |
| Disease | Long QT syndrome 6 not provided Cardiac arrhythmia not specified Cardiovascular phenotype |
| Variation | info |
| Gene | KCNE2 |
| CLNDBN | Long QT syndrome 6 not provided Cardiac arrhythmia not specified Cardiovascular phenotype |
| Reversed | 0 |
| HGVS | NC_000021.8:g.35742947T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006426.3, RCV000058362.5, RCV000148521.4, RCV000212498.2, RCV000241603.1, |
[PMID 10219239] MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.
[PMID 10984545
] A common polymorphism associated with antibiotic-induced cardiac arrhythmia.
[PMID 14760488] Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients 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.
