rs74315447
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs74315447(C;C) |
| Make rs74315447(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 34370639 |
| Gene | KCNE2, LOC105372791 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315447 |
| dbSNP (classic) | rs74315447 |
| ClinGen | rs74315447 |
| ebi | rs74315447 |
| HLI | rs74315447 |
| Exac | rs74315447 |
| Gnomad | rs74315447 |
| Varsome | rs74315447 |
| LitVar | rs74315447 |
| Map | rs74315447 |
| PheGenI | rs74315447 |
| Biobank | rs74315447 |
| 1000 genomes | rs74315447 |
| hgdp | rs74315447 |
| ensembl | rs74315447 |
| geneview | rs74315447 |
| scholar | rs74315447 |
| rs74315447 | |
| pharmgkb | rs74315447 |
| gwascentral | rs74315447 |
| openSNP | rs74315447 |
| 23andMe | rs74315447 |
| SNPshot | rs74315447 |
| SNPdbe | rs74315447 |
| MSV3d | rs74315447 |
| GWAS Ctlg | rs74315447 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs74315447(C;C) |
| Alt | rs74315447(C;C) |
| Reference | Rs74315447(T;T) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 6 Congenital long QT syndrome Cardiac arrhythmia not provided KCNE2-Related Disorders |
| Variation | info |
| Gene | KCNE2 |
| CLNDBN | Long QT syndrome 6 Congenital long QT syndrome Cardiac arrhythmia not provided KCNE2-Related Disorders |
| Reversed | 0 |
| HGVS | NC_000021.8:g.35742938T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006425.3, RCV000058360.3, RCV000148518.3, RCV000212497.2, RCV000407848.1, |
[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 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
