rs79654911
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs79654911(C;T) |
| Make rs79654911(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 21 |
| Position | 34449435 |
| Gene | KCNE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs79654911 |
| dbSNP (classic) | rs79654911 |
| ClinGen | rs79654911 |
| ebi | rs79654911 |
| HLI | rs79654911 |
| Exac | rs79654911 |
| Gnomad | rs79654911 |
| Varsome | rs79654911 |
| LitVar | rs79654911 |
| Map | rs79654911 |
| PheGenI | rs79654911 |
| Biobank | rs79654911 |
| 1000 genomes | rs79654911 |
| hgdp | rs79654911 |
| ensembl | rs79654911 |
| geneview | rs79654911 |
| scholar | rs79654911 |
| rs79654911 | |
| pharmgkb | rs79654911 |
| gwascentral | rs79654911 |
| openSNP | rs79654911 |
| 23andMe | rs79654911 |
| SNPshot | rs79654911 |
| SNPdbe | rs79654911 |
| MSV3d | rs79654911 |
| GWAS Ctlg | rs79654911 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs79654911(A;A) rs79654911(T;T) |
| Alt | rs79654911(A;A) rs79654911(T;T) |
| Reference | Rs79654911(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided Congenital long QT syndrome Long QT syndrome not specified |
| Variation | info |
| Gene | KCNE1B KCNE1 |
| CLNDBN | not provided Congenital long QT syndrome Long QT syndrome not specified |
| Reversed | 0 |
| HGVS | NC_000021.8:g.35821733C>A; NC_000021.8:g.35821733C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000482361.1, RCV000119073.2, RCV000148517.1, RCV000223718.1, RCV000413332.1, |
