rs397508112
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs397508112(-;-) |
| Make rs397508112(-;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2570638 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397508112 |
| dbSNP (classic) | rs397508112 |
| ClinGen | rs397508112 |
| ebi | rs397508112 |
| HLI | rs397508112 |
| Exac | rs397508112 |
| Gnomad | rs397508112 |
| Varsome | rs397508112 |
| LitVar | rs397508112 |
| Map | rs397508112 |
| PheGenI | rs397508112 |
| Biobank | rs397508112 |
| 1000 genomes | rs397508112 |
| hgdp | rs397508112 |
| ensembl | rs397508112 |
| geneview | rs397508112 |
| scholar | rs397508112 |
| rs397508112 | |
| pharmgkb | rs397508112 |
| gwascentral | rs397508112 |
| openSNP | rs397508112 |
| 23andMe | rs397508112 |
| SNPshot | rs397508112 |
| SNPdbe | rs397508112 |
| MSV3d | rs397508112 |
| GWAS Ctlg | rs397508112 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397508112(-;-) |
| Alt | rs397508112(-;-) |
| Reference | Rs397508112(T;T) |
| Significance | Pathogenic |
| Disease | Long QT syndrome not provided Jervell and Lange-Nielsen syndrome |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome, LQT1 subtype not provided Jervell and Lange-Nielsen syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2591868delT |
| CLNSRC | ClinVar |
| CLNACC | RCV000046064.2, RCV000182264.3, RCV000217623.1, |
