rs137854609
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 5 | Romano-Ward Long QT Syndrome |
| Make rs137854609(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38581170 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854609 |
| dbSNP (classic) | rs137854609 |
| ClinGen | rs137854609 |
| ebi | rs137854609 |
| HLI | rs137854609 |
| Exac | rs137854609 |
| Gnomad | rs137854609 |
| Varsome | rs137854609 |
| LitVar | rs137854609 |
| Map | rs137854609 |
| PheGenI | rs137854609 |
| Biobank | rs137854609 |
| 1000 genomes | rs137854609 |
| hgdp | rs137854609 |
| ensembl | rs137854609 |
| geneview | rs137854609 |
| scholar | rs137854609 |
| rs137854609 | |
| pharmgkb | rs137854609 |
| gwascentral | rs137854609 |
| openSNP | rs137854609 |
| 23andMe | rs137854609 |
| SNPshot | rs137854609 |
| SNPdbe | rs137854609 |
| MSV3d | rs137854609 |
| GWAS Ctlg | rs137854609 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs137854609(A;A) rs137854609(T;T) |
| Alt | rs137854609(A;A) rs137854609(T;T) |
| Reference | Rs137854609(G;G) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 3 Congenital long QT syndrome not provided Brugada syndrome not specified SUDDEN INFANT DEATH SYNDROME |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Long QT syndrome 3 Congenital long QT syndrome not provided Brugada syndrome not specified SUDDEN INFANT DEATH SYNDROME |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38622661C>A; NC_000003.11:g.38622661C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009986.3, RCV000058542.3, RCV000183020.2, RCV000058541.2, RCV000151787.2, RCV000171570.2, |
[PMID 20129283
] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
[PMID 11710892] Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
