rs140452381
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs140452381(C;T) |
| Make rs140452381(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 2588815 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140452381 |
| dbSNP (classic) | rs140452381 |
| ClinGen | rs140452381 |
| ebi | rs140452381 |
| HLI | rs140452381 |
| Exac | rs140452381 |
| Gnomad | rs140452381 |
| Varsome | rs140452381 |
| LitVar | rs140452381 |
| Map | rs140452381 |
| PheGenI | rs140452381 |
| Biobank | rs140452381 |
| 1000 genomes | rs140452381 |
| hgdp | rs140452381 |
| ensembl | rs140452381 |
| geneview | rs140452381 |
| scholar | rs140452381 |
| rs140452381 | |
| pharmgkb | rs140452381 |
| gwascentral | rs140452381 |
| openSNP | rs140452381 |
| 23andMe | rs140452381 |
| SNPshot | rs140452381 |
| SNPdbe | rs140452381 |
| MSV3d | rs140452381 |
| GWAS Ctlg | rs140452381 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs140452381(T;T) |
| Alt | rs140452381(T;T) |
| Reference | Rs140452381(C;C) |
| Significance | Untested |
| Disease | Congenital long QT syndrome Long QT syndrome not specified not provided |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Congenital long QT syndrome Long QT syndrome not specified not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2610045C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000057582.3, RCV000148551.2, RCV000182188.2, RCV000224680.1, |
