rs17215479
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs17215479(A;A) |
| Make rs17215479(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 2571363 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17215479 |
| dbSNP (classic) | rs17215479 |
| ClinGen | rs17215479 |
| ebi | rs17215479 |
| HLI | rs17215479 |
| Exac | rs17215479 |
| Gnomad | rs17215479 |
| Varsome | rs17215479 |
| LitVar | rs17215479 |
| Map | rs17215479 |
| PheGenI | rs17215479 |
| Biobank | rs17215479 |
| 1000 genomes | rs17215479 |
| hgdp | rs17215479 |
| ensembl | rs17215479 |
| geneview | rs17215479 |
| scholar | rs17215479 |
| rs17215479 | |
| pharmgkb | rs17215479 |
| gwascentral | rs17215479 |
| openSNP | rs17215479 |
| 23andMe | rs17215479 |
| SNPshot | rs17215479 |
| SNPdbe | rs17215479 |
| MSV3d | rs17215479 |
| GWAS Ctlg | rs17215479 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs17215479(A;A) |
| Alt | rs17215479(A;A) |
| Reference | Rs17215479(G;G) |
| Significance | Pathogenic |
| Disease | Long QT syndrome Congenital long QT syndrome not provided |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2592593G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000046101.2, RCV000057727.3, RCV000255103.1, |
