rs199473207
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199473207(C;T) |
| Make rs199473207(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38566555 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199473207 |
| dbSNP (classic) | rs199473207 |
| ClinGen | rs199473207 |
| ebi | rs199473207 |
| HLI | rs199473207 |
| Exac | rs199473207 |
| Gnomad | rs199473207 |
| Varsome | rs199473207 |
| LitVar | rs199473207 |
| Map | rs199473207 |
| PheGenI | rs199473207 |
| Biobank | rs199473207 |
| 1000 genomes | rs199473207 |
| hgdp | rs199473207 |
| ensembl | rs199473207 |
| geneview | rs199473207 |
| scholar | rs199473207 |
| rs199473207 | |
| pharmgkb | rs199473207 |
| gwascentral | rs199473207 |
| openSNP | rs199473207 |
| 23andMe | rs199473207 |
| SNPshot | rs199473207 |
| SNPdbe | rs199473207 |
| MSV3d | rs199473207 |
| GWAS Ctlg | rs199473207 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199473207(T;T) |
| Alt | rs199473207(T;T) |
| Reference | Rs199473207(C;C) |
| Significance | Pathogenic |
| Disease | Brugada syndrome 1 Brugada syndrome not specified |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Brugada syndrome 1 Brugada syndrome not specified |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38608046G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009965.5, RCV000058588.2, RCV000144030.2, RCV000183042.2, |
[PMID 9521325] Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
[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 21321465] Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.
