rs137854612
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Brugada Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs137854612(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38560170 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854612 |
| dbSNP (classic) | rs137854612 |
| ClinGen | rs137854612 |
| ebi | rs137854612 |
| HLI | rs137854612 |
| Exac | rs137854612 |
| Gnomad | rs137854612 |
| Varsome | rs137854612 |
| LitVar | rs137854612 |
| Map | rs137854612 |
| PheGenI | rs137854612 |
| Biobank | rs137854612 |
| 1000 genomes | rs137854612 |
| hgdp | rs137854612 |
| ensembl | rs137854612 |
| geneview | rs137854612 |
| scholar | rs137854612 |
| rs137854612 | |
| pharmgkb | rs137854612 |
| gwascentral | rs137854612 |
| openSNP | rs137854612 |
| 23andMe | rs137854612 |
| SNPshot | rs137854612 |
| SNPdbe | rs137854612 |
| MSV3d | rs137854612 |
| GWAS Ctlg | rs137854612 |
| Merged from | Rs28936971 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs137854612(A;A) |
| Alt | rs137854612(A;A) |
| Reference | Rs137854612(G;G) |
| Significance | Pathogenic |
| Disease | Sick sinus syndrome 1 Brugada syndrome 1 Cardiac conduction defect Brugada syndrome not provided |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Sick sinus syndrome 1, autosomal recessive Brugada syndrome 1 Cardiac conduction defect, nonspecific Brugada syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38601661C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009995.4, RCV000009996.5, RCV000009997.2, RCV000058649.2, RCV000183190.3, |
[PMID 11748104] Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family.
[PMID 14523039
] Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).
[PMID 19251209] Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
[PMID 20129283] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
[PMID 20539757] Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.
