rs120074193
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
Make rs120074193(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2572870 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs120074193 |
dbSNP (classic) | rs120074193 |
ClinGen | rs120074193 |
ebi | rs120074193 |
HLI | rs120074193 |
Exac | rs120074193 |
Gnomad | rs120074193 |
Varsome | rs120074193 |
LitVar | rs120074193 |
Map | rs120074193 |
PheGenI | rs120074193 |
Biobank | rs120074193 |
1000 genomes | rs120074193 |
hgdp | rs120074193 |
ensembl | rs120074193 |
geneview | rs120074193 |
scholar | rs120074193 |
rs120074193 | |
pharmgkb | rs120074193 |
gwascentral | rs120074193 |
openSNP | rs120074193 |
23andMe | rs120074193 |
SNPshot | rs120074193 |
SNPdbe | rs120074193 |
MSV3d | rs120074193 |
GWAS Ctlg | rs120074193 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs120074193(A;A) rs120074193(C;C) |
Alt | rs120074193(A;A) rs120074193(C;C) |
Reference | Rs120074193(G;G) |
Significance | Pathogenic |
Disease | Long QT syndrome 1 Congenital long QT syndrome not provided Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome 1 Congenital long QT syndrome not provided Long QT syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2594100G>A; NC_000011.9:g.2594100G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003294.3, RCV000057765.3, RCV000182118.4, RCV000477568.1, RCV000182306.1, |
[PMID 15466] Analysis of employment turnover and job satisfaction of physician's assistants graduated from the Physician's Assistant Program of the University of Alabama in Birmingham, 1972-1975.
[PMID 10560595] Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 12205113] Mutation in KCNQ1 that has both recessive and dominant characteristics.
[PMID 12702160] KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.
[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.