rs34516117
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs34516117(C;T) |
| Make rs34516117(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 2847771 |
| Gene | KCNQ1, KCNQ1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34516117 |
| dbSNP (classic) | rs34516117 |
| ClinGen | rs34516117 |
| ebi | rs34516117 |
| HLI | rs34516117 |
| Exac | rs34516117 |
| Gnomad | rs34516117 |
| Varsome | rs34516117 |
| LitVar | rs34516117 |
| Map | rs34516117 |
| PheGenI | rs34516117 |
| Biobank | rs34516117 |
| 1000 genomes | rs34516117 |
| hgdp | rs34516117 |
| ensembl | rs34516117 |
| geneview | rs34516117 |
| scholar | rs34516117 |
| rs34516117 | |
| pharmgkb | rs34516117 |
| gwascentral | rs34516117 |
| openSNP | rs34516117 |
| 23andMe | rs34516117 |
| SNPshot | rs34516117 |
| SNPdbe | rs34516117 |
| MSV3d | rs34516117 |
| GWAS Ctlg | rs34516117 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34516117(T;T) |
| Alt | rs34516117(T;T) |
| Reference | Rs34516117(C;C) |
| Significance | Untested |
| Disease | Congenital long QT syndrome Long QT syndrome not specified Cardiovascular phenotype |
| Variation | info |
| Gene | KCNQ1-AS1 KCNQ1 |
| CLNDBN | Congenital long QT syndrome Long QT syndrome not specified Cardiovascular phenotype |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2869001C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000057641.3, RCV000148552.1, RCV000182231.2, RCV000242195.1, |
