rs397508124
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CGTGGTCTT;CGTGGTCTT) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| Make rs397508124(-;-) |
| Make rs397508124(-;GTGGTCTTC) |
| Make rs397508124(GTGGTCTTC;GTGGTCTTC) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 2572089 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397508124 |
| dbSNP (classic) | rs397508124 |
| ClinGen | rs397508124 |
| ebi | rs397508124 |
| HLI | rs397508124 |
| Exac | rs397508124 |
| Gnomad | rs397508124 |
| Varsome | rs397508124 |
| LitVar | rs397508124 |
| Map | rs397508124 |
| PheGenI | rs397508124 |
| Biobank | rs397508124 |
| 1000 genomes | rs397508124 |
| hgdp | rs397508124 |
| ensembl | rs397508124 |
| geneview | rs397508124 |
| scholar | rs397508124 |
| rs397508124 | |
| pharmgkb | rs397508124 |
| gwascentral | rs397508124 |
| openSNP | rs397508124 |
| 23andMe | rs397508124 |
| SNPshot | rs397508124 |
| SNPdbe | rs397508124 |
| MSV3d | rs397508124 |
| GWAS Ctlg | rs397508124 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397508124(-;-) |
| Alt | rs397508124(-;-) |
| Reference | Rs397508124(CGTGGTCTT;CGTGGTCTT) |
| Significance | Pathogenic |
| Disease | Long QT syndrome Cardiac arrhythmia |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome, LQT1 subtype Cardiac arrhythmia |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2593319_2593327delGTGGTCTTC |
| CLNSRC | |
| CLNACC | RCV000046120.2, RCV000182332.1, |
