rs142511345
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs142511345(A;A) |
| Make rs142511345(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 21 |
| Position | 34449261 |
| Gene | KCNE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142511345 |
| dbSNP (classic) | rs142511345 |
| ClinGen | rs142511345 |
| ebi | rs142511345 |
| HLI | rs142511345 |
| Exac | rs142511345 |
| Gnomad | rs142511345 |
| Varsome | rs142511345 |
| LitVar | rs142511345 |
| Map | rs142511345 |
| PheGenI | rs142511345 |
| Biobank | rs142511345 |
| 1000 genomes | rs142511345 |
| hgdp | rs142511345 |
| ensembl | rs142511345 |
| geneview | rs142511345 |
| scholar | rs142511345 |
| rs142511345 | |
| pharmgkb | rs142511345 |
| gwascentral | rs142511345 |
| openSNP | rs142511345 |
| 23andMe | rs142511345 |
| SNPshot | rs142511345 |
| SNPdbe | rs142511345 |
| MSV3d | rs142511345 |
| GWAS Ctlg | rs142511345 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142511345(A;A) |
| Alt | rs142511345(A;A) |
| Reference | Rs142511345(G;G) |
| Significance | Other |
| Disease | Congenital long QT syndrome Long QT syndrome not specified Jervell and Lange-Nielsen syndrome Romano-Ward syndrome |
| Variation | info |
| Gene | KCNE1B KCNE1 |
| CLNDBN | Congenital long QT syndrome Long QT syndrome not specified Jervell and Lange-Nielsen syndrome Romano-Ward syndrome |
| Reversed | 0 |
| HGVS | NC_000021.8:g.35821559G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000119091.2, RCV000148513.2, RCV000150856.1, RCV000321437.1, RCV000376098.1, |
