rs77331749
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs77331749(C;T) |
| Make rs77331749(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 150947833 |
| Gene | KCNH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77331749 |
| dbSNP (classic) | rs77331749 |
| ClinGen | rs77331749 |
| ebi | rs77331749 |
| HLI | rs77331749 |
| Exac | rs77331749 |
| Gnomad | rs77331749 |
| Varsome | rs77331749 |
| LitVar | rs77331749 |
| Map | rs77331749 |
| PheGenI | rs77331749 |
| Biobank | rs77331749 |
| 1000 genomes | rs77331749 |
| hgdp | rs77331749 |
| ensembl | rs77331749 |
| geneview | rs77331749 |
| scholar | rs77331749 |
| rs77331749 | |
| pharmgkb | rs77331749 |
| gwascentral | rs77331749 |
| openSNP | rs77331749 |
| 23andMe | rs77331749 |
| SNPshot | rs77331749 |
| SNPdbe | rs77331749 |
| MSV3d | rs77331749 |
| GWAS Ctlg | rs77331749 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs77331749(T;T) |
| Alt | rs77331749(T;T) |
| Reference | Rs77331749(C;C) |
| Significance | Other |
| Disease | Long QT syndrome 2 Long QT syndrome 2/9 Congenital long QT syndrome not specified Long QT syndrome |
| Variation | info |
| Gene | KCNH2 |
| CLNDBN | Long QT syndrome 2 Long QT syndrome 2/9, digenic Congenital long QT syndrome not specified Long QT syndrome |
| Reversed | 1 |
| HGVS | NC_000007.13:g.150644921G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015526.28, RCV000015527.27, RCV000058156.3, RCV000181887.3, RCV000204621.2, |
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
[PMID 19716085
] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
