|
rs199472821
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs147445322
|
KCNQ1;KCNQ1-AS1
|
Uric acid measurement (procedure)
|
|
0.700 |
GeneticVariation |
GWASCAT |
Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
|
29124443 |
2018 |
|
rs147445322
|
KCNQ1;KCNQ1-AS1
|
Hyperuricemia
|
|
0.700 |
GeneticVariation |
GWASCAT |
Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
|
29124443 |
2018 |
|
rs199472819
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
|
25705178 |
2015 |
|
rs199473484
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
|
25705178 |
2015 |
|
rs34516117
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
|
25705178 |
2015 |
|
rs199472819
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
A molecular mechanism for adrenergic-induced long QT syndrome.
|
24184248 |
2014 |
|
rs199473484
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
A molecular mechanism for adrenergic-induced long QT syndrome.
|
24184248 |
2014 |
|
rs34516117
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
A molecular mechanism for adrenergic-induced long QT syndrome.
|
24184248 |
2014 |
|
rs397508104
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.
|
25187895 |
2014 |
|
rs397508104
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
|
23631430 |
2013 |
|
rs397508104
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
|
23098067 |
2012 |
|
rs199472819
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
|
21241800 |
2011 |
|
rs199473484
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
|
21241800 |
2011 |
|
rs34516117
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
|
21241800 |
2011 |
|
rs199472819
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
|
19808498 |
2009 |
|
rs199473484
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
|
19808498 |
2009 |
|
rs34516117
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
|
19808498 |
2009 |
|
rs397508104
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.
|
19825999 |
2009 |
|
rs199472819
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
|
18165683 |
2008 |
|
rs199473484
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
|
18165683 |
2008 |
|
rs34516117
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
|
18165683 |
2008 |
|
rs199472819
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
16922724 |
2006 |
|
rs199473484
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
16922724 |
2006 |
|
rs34516117
|
KCNQ1;KCNQ1-AS1
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
16922724 |
2006 |