rs12720449
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs12720449(C;G) |
| Make rs12720449(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2588804 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12720449 |
| dbSNP (classic) | rs12720449 |
| ClinGen | rs12720449 |
| ebi | rs12720449 |
| HLI | rs12720449 |
| Exac | rs12720449 |
| Gnomad | rs12720449 |
| Varsome | rs12720449 |
| LitVar | rs12720449 |
| Map | rs12720449 |
| PheGenI | rs12720449 |
| Biobank | rs12720449 |
| 1000 genomes | rs12720449 |
| hgdp | rs12720449 |
| ensembl | rs12720449 |
| geneview | rs12720449 |
| scholar | rs12720449 |
| rs12720449 | |
| pharmgkb | rs12720449 |
| gwascentral | rs12720449 |
| openSNP | rs12720449 |
| 23andMe | rs12720449 |
| SNPshot | rs12720449 |
| SNPdbe | rs12720449 |
| MSV3d | rs12720449 |
| GWAS Ctlg | rs12720449 |
| GMAF | 0.02938 |
| Max Magnitude | 0 |
[PMID 22479571
] Several Polymorphisms of KCNQ1 Gene Are Associated with Plasma Lipid Levels in General Chinese Populations
| ClinVar | |
|---|---|
| Risk | rs12720449(A;A) rs12720449(G;G) rs12720449(T;T) |
| Alt | rs12720449(A;A) rs12720449(G;G) rs12720449(T;T) |
| Reference | Rs12720449(C;C) |
| Significance | Other |
| Disease | Long QT syndrome not provided not specified Cardiovascular phenotype Congenital long QT syndrome |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome not provided not specified Cardiovascular phenotype Congenital long QT syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2610034C>A; NC_000011.9:g.2610034C>G; NC_000011.9:g.2610034C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000206878.1, RCV000057578.3, RCV000155365.1, RCV000171758.3, RCV000252693.1, RCV000057579.3, RCV000182185.2, |
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
[PMID 15242] [Nature of the enzymes participating in the transformation of proinsulin into insulin].
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 11997281] Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
[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 14731347] [A novel KCNQ1 mutation in Chinese with congenital long QT syndrome].
[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.
