rs199472918
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 5 | Romano-Ward Long QT Syndrome |
| (T;T) | 0 | common in clinvar |
| Make rs199472918(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 150951738 |
| Gene | KCNH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199472918 |
| dbSNP (classic) | rs199472918 |
| ClinGen | rs199472918 |
| ebi | rs199472918 |
| HLI | rs199472918 |
| Exac | rs199472918 |
| Gnomad | rs199472918 |
| Varsome | rs199472918 |
| LitVar | rs199472918 |
| Map | rs199472918 |
| PheGenI | rs199472918 |
| Biobank | rs199472918 |
| 1000 genomes | rs199472918 |
| hgdp | rs199472918 |
| ensembl | rs199472918 |
| geneview | rs199472918 |
| scholar | rs199472918 |
| rs199472918 | |
| pharmgkb | rs199472918 |
| gwascentral | rs199472918 |
| openSNP | rs199472918 |
| 23andMe | rs199472918 |
| SNPshot | rs199472918 |
| SNPdbe | rs199472918 |
| MSV3d | rs199472918 |
| GWAS Ctlg | rs199472918 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs199472918(C;C) |
| Alt | rs199472918(C;C) |
| Reference | Rs199472918(T;T) |
| Significance | Pathogenic |
| Disease | Congenital long QT syndrome Long QT syndrome 2 not provided Cardiovascular phenotype |
| Variation | info |
| Gene | KCNH2 |
| CLNDBN | Congenital long QT syndrome Long QT syndrome 2 not provided Cardiovascular phenotype |
| Reversed | 1 |
| HGVS | NC_000007.13:g.150648826A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000057934.3, RCV000208055.1, RCV000223726.2, RCV000248595.1, |
