rs137854601
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs137854601(A;A) |
| Make rs137854601(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38551022 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854601 |
| dbSNP (classic) | rs137854601 |
| ClinGen | rs137854601 |
| ebi | rs137854601 |
| HLI | rs137854601 |
| Exac | rs137854601 |
| Gnomad | rs137854601 |
| Varsome | rs137854601 |
| LitVar | rs137854601 |
| Map | rs137854601 |
| PheGenI | rs137854601 |
| Biobank | rs137854601 |
| 1000 genomes | rs137854601 |
| hgdp | rs137854601 |
| ensembl | rs137854601 |
| geneview | rs137854601 |
| scholar | rs137854601 |
| rs137854601 | |
| pharmgkb | rs137854601 |
| gwascentral | rs137854601 |
| openSNP | rs137854601 |
| 23andMe | rs137854601 |
| SNPshot | rs137854601 |
| SNPdbe | rs137854601 |
| MSV3d | rs137854601 |
| GWAS Ctlg | rs137854601 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854601(A;A) |
| Alt | rs137854601(A;A) |
| Reference | Rs137854601(G;G) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 3 Brugada syndrome 1 Sinus node disease Congenital long QT syndrome not provided Brugada syndrome Cardiovascular phenotype |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Long QT syndrome 3 Brugada syndrome 1 Sinus node disease Congenital long QT syndrome not provided Brugada syndrome Cardiovascular phenotype |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38592513C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009972.3, RCV000009973.4, RCV000009974.2, RCV000058773.3, RCV000183117.4, RCV000208193.3, RCV000245905.1, |
[PMID 15840] The purification and properties of NADP-dependent isocitrate dehydrogenase from ox-heart mitochondria.
[PMID 10377081] Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
[PMID 10961955] The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 11901046] Natural history of Brugada syndrome: insights for risk stratification and management.
[PMID 12877697] Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.
