rs141813529
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs141813529(A;G) |
| Make rs141813529(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 34449459 |
| Gene | KCNE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs141813529 |
| dbSNP (classic) | rs141813529 |
| ClinGen | rs141813529 |
| ebi | rs141813529 |
| HLI | rs141813529 |
| Exac | rs141813529 |
| Gnomad | rs141813529 |
| Varsome | rs141813529 |
| LitVar | rs141813529 |
| Map | rs141813529 |
| PheGenI | rs141813529 |
| Biobank | rs141813529 |
| 1000 genomes | rs141813529 |
| hgdp | rs141813529 |
| ensembl | rs141813529 |
| geneview | rs141813529 |
| scholar | rs141813529 |
| rs141813529 | |
| pharmgkb | rs141813529 |
| gwascentral | rs141813529 |
| openSNP | rs141813529 |
| 23andMe | rs141813529 |
| SNPshot | rs141813529 |
| SNPdbe | rs141813529 |
| MSV3d | rs141813529 |
| GWAS Ctlg | rs141813529 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs141813529(G;G) |
| Alt | rs141813529(G;G) |
| Reference | Rs141813529(A;A) |
| Significance | Untested |
| Disease | Congenital long QT syndrome not specified |
| Variation | info |
| Gene | KCNE1B KCNE1 |
| CLNDBN | Congenital long QT syndrome not specified |
| Reversed | 0 |
| HGVS | NC_000021.8:g.35821757A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000119071.2, RCV000455708.1, |
[PMID 19716085
] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
