rs199472721
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199472721(C;C) |
| Make rs199472721(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2572848 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199472721 |
| dbSNP (classic) | rs199472721 |
| ClinGen | rs199472721 |
| ebi | rs199472721 |
| HLI | rs199472721 |
| Exac | rs199472721 |
| Gnomad | rs199472721 |
| Varsome | rs199472721 |
| LitVar | rs199472721 |
| Map | rs199472721 |
| PheGenI | rs199472721 |
| Biobank | rs199472721 |
| 1000 genomes | rs199472721 |
| hgdp | rs199472721 |
| ensembl | rs199472721 |
| geneview | rs199472721 |
| scholar | rs199472721 |
| rs199472721 | |
| pharmgkb | rs199472721 |
| gwascentral | rs199472721 |
| openSNP | rs199472721 |
| 23andMe | rs199472721 |
| SNPshot | rs199472721 |
| SNPdbe | rs199472721 |
| MSV3d | rs199472721 |
| GWAS Ctlg | rs199472721 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199472721(C;C) |
| Alt | rs199472721(C;C) |
| Reference | Rs199472721(G;G) |
| Significance | Untested |
| Disease | Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2594078G>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000046127.2, RCV000057760.3, |
[PMID 10704188] Jervell and Lange-Nielsen syndrome: a Norwegian perspective.
[PMID 11530100] A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
[PMID 18752142] Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
