rs199472821
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199472821(A;A) |
| Make rs199472821(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 2847848 |
| Gene | KCNQ1, KCNQ1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199472821 |
| dbSNP (classic) | rs199472821 |
| ClinGen | rs199472821 |
| ebi | rs199472821 |
| HLI | rs199472821 |
| Exac | rs199472821 |
| Gnomad | rs199472821 |
| Varsome | rs199472821 |
| LitVar | rs199472821 |
| Map | rs199472821 |
| PheGenI | rs199472821 |
| Biobank | rs199472821 |
| 1000 genomes | rs199472821 |
| hgdp | rs199472821 |
| ensembl | rs199472821 |
| geneview | rs199472821 |
| scholar | rs199472821 |
| rs199472821 | |
| pharmgkb | rs199472821 |
| gwascentral | rs199472821 |
| openSNP | rs199472821 |
| 23andMe | rs199472821 |
| SNPshot | rs199472821 |
| SNPdbe | rs199472821 |
| MSV3d | rs199472821 |
| GWAS Ctlg | rs199472821 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199472821(A;A) |
| Alt | rs199472821(A;A) |
| Reference | Rs199472821(G;G) |
| Significance | Pathogenic |
| Disease | Long QT syndrome Congenital long QT syndrome not provided |
| Variation | info |
| Gene | KCNQ1-AS1 KCNQ1 |
| CLNDBN | Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2869078G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000046035.2, RCV000057647.3, RCV000182325.1, |
