KCNH2, potassium voltage-gated channel subfamily H member 2, 3757
N. diseases: 189; N. variants: 386
Source: ALL
| Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 7 | 150951738 | missense variant | A/G | snv | 7.2E-05 | 5.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.882 | 0.120 | 7 | 150958449 | missense variant | G/A;C | snv | 3.2E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.120 | 7 | 150952535 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.882 | 0.080 | 7 | 150952443 | synonymous variant | G/A | snv | 0.30 | 0.26 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 7 | 150952515 | synonymous variant | G/A;T | snv | 0.30; 7.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 7 | 150951592 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
7 | 150947362 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 7 | 150951511 | missense variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 150964321 | intron variant | G/A | snv | 0.24 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
0.851 | 0.120 | 7 | 150951629 | missense variant | G/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 7 | 150947849 | frameshift variant | -/TTGG | ins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 7 | 150952443 | synonymous variant | G/A | snv | 0.30 | 0.26 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 7 | 150951516 | missense variant | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 7 | 150965242 | intron variant | C/T | snv | 0.70 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 7 | 150970122 | intron variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 7 | 150955422 | missense variant | G/A;C | snv | 7.1E-05 | 4.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.925 | 0.120 | 7 | 150952535 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |