rs150172393
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs150172393(C;T) |
| Make rs150172393(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 2570733 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs150172393 |
| dbSNP (classic) | rs150172393 |
| ClinGen | rs150172393 |
| ebi | rs150172393 |
| HLI | rs150172393 |
| Exac | rs150172393 |
| Gnomad | rs150172393 |
| Varsome | rs150172393 |
| LitVar | rs150172393 |
| Map | rs150172393 |
| PheGenI | rs150172393 |
| Biobank | rs150172393 |
| 1000 genomes | rs150172393 |
| hgdp | rs150172393 |
| ensembl | rs150172393 |
| geneview | rs150172393 |
| scholar | rs150172393 |
| rs150172393 | |
| pharmgkb | rs150172393 |
| gwascentral | rs150172393 |
| openSNP | rs150172393 |
| 23andMe | rs150172393 |
| SNPshot | rs150172393 |
| SNPdbe | rs150172393 |
| MSV3d | rs150172393 |
| GWAS Ctlg | rs150172393 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs150172393(T;T) |
| Alt | rs150172393(T;T) |
| Reference | Rs150172393(C;C) |
| Significance | Untested |
| Disease | Congenital long QT syndrome Long QT syndrome |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Congenital long QT syndrome Long QT syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2591963C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000057713.3, RCV000148554.2, |
