rs72549410
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs72549410(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 38606058 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72549410 |
| dbSNP (classic) | rs72549410 |
| ClinGen | rs72549410 |
| ebi | rs72549410 |
| HLI | rs72549410 |
| Exac | rs72549410 |
| Gnomad | rs72549410 |
| Varsome | rs72549410 |
| LitVar | rs72549410 |
| Map | rs72549410 |
| PheGenI | rs72549410 |
| Biobank | rs72549410 |
| 1000 genomes | rs72549410 |
| hgdp | rs72549410 |
| ensembl | rs72549410 |
| geneview | rs72549410 |
| scholar | rs72549410 |
| rs72549410 | |
| pharmgkb | rs72549410 |
| gwascentral | rs72549410 |
| openSNP | rs72549410 |
| 23andMe | rs72549410 |
| SNPshot | rs72549410 |
| SNPdbe | rs72549410 |
| MSV3d | rs72549410 |
| GWAS Ctlg | rs72549410 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs72549410(A;A) |
| Alt | rs72549410(A;A) |
| Reference | Rs72549410(G;G) |
| Significance | Pathogenic |
| Disease | Congenital long QT syndrome Long QT syndrome not provided Brugada syndrome Long QT syndrome 3 |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Congenital long QT syndrome Long QT syndrome not provided Brugada syndrome Long QT syndrome 3 |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38647549C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000058408.3, RCV000157478.1, RCV000182964.4, RCV000197436.3, RCV000234790.1, |
