rs199473362
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199473362(C;T) |
| Make rs199473362(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 21 |
| Position | 34449343 |
| Gene | KCNE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199473362 |
| dbSNP (classic) | rs199473362 |
| ClinGen | rs199473362 |
| ebi | rs199473362 |
| HLI | rs199473362 |
| Exac | rs199473362 |
| Gnomad | rs199473362 |
| Varsome | rs199473362 |
| LitVar | rs199473362 |
| Map | rs199473362 |
| PheGenI | rs199473362 |
| Biobank | rs199473362 |
| 1000 genomes | rs199473362 |
| hgdp | rs199473362 |
| ensembl | rs199473362 |
| geneview | rs199473362 |
| scholar | rs199473362 |
| rs199473362 | |
| pharmgkb | rs199473362 |
| gwascentral | rs199473362 |
| openSNP | rs199473362 |
| 23andMe | rs199473362 |
| SNPshot | rs199473362 |
| SNPdbe | rs199473362 |
| MSV3d | rs199473362 |
| GWAS Ctlg | rs199473362 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199473362(A;A) rs199473362(G;G) rs199473362(T;T) |
| Alt | rs199473362(A;A) rs199473362(G;G) rs199473362(T;T) |
| Reference | Rs199473362(C;C) |
| Significance | Other |
| Disease | Congenital long QT syndrome Long QT syndrome not specified |
| Variation | info |
| Gene | KCNE1B KCNE1 |
| CLNDBN | Congenital long QT syndrome Long QT syndrome not specified |
| Reversed | 1 |
| HGVS | NC_000021.8:g.35821641G>A; NC_000021.8:g.35821641G>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000119088.2, RCV000171560.1, RCV000222068.1, |
