rs606231414
From SNPedia
| Merged into | rs397508118 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GCTGC;GCTGC) | 0 | common in clinvar |
| Make rs606231414(-;-) |
| Make rs606231414(-;TGCGC) |
| Make rs606231414(TGCGC;TGCGC) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 2570722 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs606231414 |
| dbSNP (classic) | rs606231414 |
| ClinGen | rs606231414 |
| ebi | rs606231414 |
| HLI | rs606231414 |
| Exac | rs606231414 |
| Gnomad | rs606231414 |
| Varsome | rs606231414 |
| LitVar | rs606231414 |
| Map | rs606231414 |
| PheGenI | rs606231414 |
| Biobank | rs606231414 |
| 1000 genomes | rs606231414 |
| hgdp | rs606231414 |
| ensembl | rs606231414 |
| geneview | rs606231414 |
| scholar | rs606231414 |
| rs606231414 | |
| pharmgkb | rs606231414 |
| gwascentral | rs606231414 |
| openSNP | rs606231414 |
| 23andMe | rs606231414 |
| SNPshot | rs606231414 |
| SNPdbe | rs606231414 |
| MSV3d | rs606231414 |
| GWAS Ctlg | rs606231414 |
| Status | Merged into rs397508118 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs606231414(GCTGC;GCTGC) |
| Significance | Pathogenic |
| Disease | Long QT syndrome Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome, LQT1 subtype Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2591953_2591957delGCGCT |
| CLNSRC | |
| CLNACC | RCV000046091.3, RCV000144973.1, RCV000182268.2, RCV000233139.1, |
