rs2519184
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2519184(A;A) |
| Make rs2519184(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 11 |
| Position | 2848482 |
| Gene | KCNQ1, KCNQ1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2519184 |
| dbSNP (classic) | rs2519184 |
| ClinGen | rs2519184 |
| ebi | rs2519184 |
| HLI | rs2519184 |
| Exac | rs2519184 |
| Gnomad | rs2519184 |
| Varsome | rs2519184 |
| LitVar | rs2519184 |
| Map | rs2519184 |
| PheGenI | rs2519184 |
| Biobank | rs2519184 |
| 1000 genomes | rs2519184 |
| hgdp | rs2519184 |
| ensembl | rs2519184 |
| geneview | rs2519184 |
| scholar | rs2519184 |
| rs2519184 | |
| pharmgkb | rs2519184 |
| gwascentral | rs2519184 |
| openSNP | rs2519184 |
| 23andMe | rs2519184 |
| SNPshot | rs2519184 |
| SNPdbe | rs2519184 |
| MSV3d | rs2519184 |
| GWAS Ctlg | rs2519184 |
| Max Magnitude | 0 |
[PMID 27531917] Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?
| ClinVar | |
|---|---|
| Risk | rs2519184(A;A) |
| Alt | rs2519184(A;A) |
| Reference | Rs2519184(G;G) |
| Significance | Non-pathogenic |
| Disease | Long QT syndrome Romano-Ward syndrome Jervell and Lange-Nielsen syndrome Familial atrial fibrillation Short QT syndrome |
| Variation | info |
| Gene | KCNQ1-AS1 KCNQ1 |
| CLNDBN | Long QT syndrome Romano-Ward syndrome Jervell and Lange-Nielsen syndrome Familial atrial fibrillation short QT syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2869712G>A |
| CLNSRC | |
| CLNACC | RCV000278908.1, RCV000282640.1, RCV000336354.1, RCV000348924.1, RCV000374654.1, |
