rs120074196
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs120074196(C;C) |
Make rs120074196(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2572057 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs120074196 |
dbSNP (classic) | rs120074196 |
ClinGen | rs120074196 |
ebi | rs120074196 |
HLI | rs120074196 |
Exac | rs120074196 |
Gnomad | rs120074196 |
Varsome | rs120074196 |
LitVar | rs120074196 |
Map | rs120074196 |
PheGenI | rs120074196 |
Biobank | rs120074196 |
1000 genomes | rs120074196 |
hgdp | rs120074196 |
ensembl | rs120074196 |
geneview | rs120074196 |
scholar | rs120074196 |
rs120074196 | |
pharmgkb | rs120074196 |
gwascentral | rs120074196 |
openSNP | rs120074196 |
23andMe | rs120074196 |
SNPshot | rs120074196 |
SNPdbe | rs120074196 |
MSV3d | rs120074196 |
GWAS Ctlg | rs120074196 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs120074196(A;A) rs120074196(C;C) |
Alt | rs120074196(A;A) rs120074196(C;C) |
Reference | Rs120074196(G;G) |
Significance | Pathogenic |
Disease | Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Long QT syndrome 1/2 Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome Long QT syndrome 1/2, digenic Long QT syndrome, LQT1 subtype |
Reversed | 0 |
HGVS | NC_000011.9:g.2593287G>A; NC_000011.9:g.2593287G>C |
CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
CLNACC | RCV000046112.2, RCV000057742.3, RCV000003300.2, RCV000046114.3, RCV000057743.3, |
[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
[PMID 181742] The nature of the phosphorus linkage in component I, a phosphoprotein isolated from the blood serum of DES-treated cockerels.
[PMID 9482580] Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.
[PMID 10090886] Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 11530100] A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.
[PMID 15028050] Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.