rs120074177
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
Make rs120074177(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2570682 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs120074177 |
dbSNP (classic) | rs120074177 |
ClinGen | rs120074177 |
ebi | rs120074177 |
HLI | rs120074177 |
Exac | rs120074177 |
Gnomad | rs120074177 |
Varsome | rs120074177 |
LitVar | rs120074177 |
Map | rs120074177 |
PheGenI | rs120074177 |
Biobank | rs120074177 |
1000 genomes | rs120074177 |
hgdp | rs120074177 |
ensembl | rs120074177 |
geneview | rs120074177 |
scholar | rs120074177 |
rs120074177 | |
pharmgkb | rs120074177 |
gwascentral | rs120074177 |
openSNP | rs120074177 |
23andMe | rs120074177 |
SNPshot | rs120074177 |
SNPdbe | rs120074177 |
MSV3d | rs120074177 |
GWAS Ctlg | rs120074177 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs120074177(A;A) rs120074177(C;C) |
Alt | rs120074177(A;A) rs120074177(C;C) |
Reference | Rs120074177(G;G) |
Significance | Other |
Disease | Congenital long QT syndrome Long QT syndrome not provided Cardiovascular phenotype Long QT syndrome 1 Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Congenital long QT syndrome Long QT syndrome not provided Cardiovascular phenotype Long QT syndrome 1 Long QT syndrome, LQT1 subtype |
Reversed | 0 |
HGVS | NC_000011.9:g.2591912G>A; NC_000011.9:g.2591912G>C |
CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
CLNACC | RCV000057692.3, RCV000148553.3, RCV000182081.2, RCV000244422.1, RCV000003260.2, RCV000046076.2, RCV000057693.3, |
[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
[PMID 9323054] Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
[PMID 9024139] Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.