rs137854617
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs137854617(A;A) |
| Make rs137854617(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38581002 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854617 |
| dbSNP (classic) | rs137854617 |
| ClinGen | rs137854617 |
| ebi | rs137854617 |
| HLI | rs137854617 |
| Exac | rs137854617 |
| Gnomad | rs137854617 |
| Varsome | rs137854617 |
| LitVar | rs137854617 |
| Map | rs137854617 |
| PheGenI | rs137854617 |
| Biobank | rs137854617 |
| 1000 genomes | rs137854617 |
| hgdp | rs137854617 |
| ensembl | rs137854617 |
| geneview | rs137854617 |
| scholar | rs137854617 |
| rs137854617 | |
| pharmgkb | rs137854617 |
| gwascentral | rs137854617 |
| openSNP | rs137854617 |
| 23andMe | rs137854617 |
| SNPshot | rs137854617 |
| SNPdbe | rs137854617 |
| MSV3d | rs137854617 |
| GWAS Ctlg | rs137854617 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854617(A;A) |
| Alt | rs137854617(A;A) |
| Reference | Rs137854617(G;G) |
| Significance | Pathogenic |
| Disease | Brugada syndrome 1 Atrial fibrillation Congenital long QT syndrome Brugada syndrome |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Brugada syndrome 1 Atrial fibrillation, familial, 10 Congenital long QT syndrome Brugada syndrome |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38622493C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000010002.3, RCV000022945.2, RCV000058552.3, RCV000469648.1, |
[PMID 11076825] Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families.
[PMID 11901046] Natural history of Brugada syndrome: insights for risk stratification and management.
[PMID 19716085
] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
