rs12720452
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs12720452(A;A) |
| Make rs12720452(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 38603758 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12720452 |
| dbSNP (classic) | rs12720452 |
| ClinGen | rs12720452 |
| ebi | rs12720452 |
| HLI | rs12720452 |
| Exac | rs12720452 |
| Gnomad | rs12720452 |
| Varsome | rs12720452 |
| LitVar | rs12720452 |
| Map | rs12720452 |
| PheGenI | rs12720452 |
| Biobank | rs12720452 |
| 1000 genomes | rs12720452 |
| hgdp | rs12720452 |
| ensembl | rs12720452 |
| geneview | rs12720452 |
| scholar | rs12720452 |
| rs12720452 | |
| pharmgkb | rs12720452 |
| gwascentral | rs12720452 |
| openSNP | rs12720452 |
| 23andMe | rs12720452 |
| SNPshot | rs12720452 |
| SNPdbe | rs12720452 |
| MSV3d | rs12720452 |
| GWAS Ctlg | rs12720452 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs12720452(A;A) |
| Alt | rs12720452(A;A) |
| Reference | Rs12720452(G;G) |
| Significance | Other |
| Disease | Congenital long QT syndrome Long QT syndrome not specified Brugada syndrome Death in infancy Death in early adulthood |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Congenital long QT syndrome Long QT syndrome, drug-associated not specified Brugada syndrome Death in infancy Death in early adulthood |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38645249C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000058455.3, RCV000148853.2, RCV000151792.4, RCV000168217.1, RCV000234973.1, RCV000234978.1, |
