rs36210421
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs36210421(G;T) |
| Make rs36210421(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 150947340 |
| Gene | KCNH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs36210421 |
| dbSNP (classic) | rs36210421 |
| ClinGen | rs36210421 |
| ebi | rs36210421 |
| HLI | rs36210421 |
| Exac | rs36210421 |
| Gnomad | rs36210421 |
| Varsome | rs36210421 |
| LitVar | rs36210421 |
| Map | rs36210421 |
| PheGenI | rs36210421 |
| Biobank | rs36210421 |
| 1000 genomes | rs36210421 |
| hgdp | rs36210421 |
| ensembl | rs36210421 |
| geneview | rs36210421 |
| scholar | rs36210421 |
| rs36210421 | |
| pharmgkb | rs36210421 |
| gwascentral | rs36210421 |
| openSNP | rs36210421 |
| 23andMe | rs36210421 |
| SNPshot | rs36210421 |
| SNPdbe | rs36210421 |
| MSV3d | rs36210421 |
| GWAS Ctlg | rs36210421 |
| GMAF | 0.01699 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs36210421(T;T) |
| Alt | rs36210421(T;T) |
| Reference | Rs36210421(G;G) |
| Significance | Other |
| Disease | Cardiac arrhythmia not provided Torsades de pointes Sudden unexplained death Long QT syndrome 2 Cardiovascular phenotype Long QT syndrome |
| Variation | info |
| Gene | KCNH2 |
| CLNDBN | Cardiac arrhythmia not provided Torsades de pointes Sudden unexplained death Long QT syndrome 2 Cardiovascular phenotype Long QT syndrome |
| Reversed | 1 |
| HGVS | NC_000007.13:g.150644428C>A |
| CLNSRC | Centenary Institute |
| CLNACC | RCV000030101.1, RCV000058202.3, RCV000171814.2, RCV000172896.1, RCV000203011.1, RCV000243613.1, RCV000401763.1, |
[PMID 19019189
] Common candidate gene variants are associated with QT interval duration in the general population.
[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 17210] [Carbogen therapy of acute cochlear disorders].
[PMID 14661677] Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.
[PMID 16487223] Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.
[PMID 17161064] Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes.
[PMID 17275752] Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition.
[PMID 11468227] Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.
