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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 7 | 150958220 | frameshift variant | -/GGCGATGGGAGCTGGCCGGG | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
7 | 150958163 | frameshift variant | CGCG/GCTTTT | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150958116 | frameshift variant | TCGGCCG/- | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150952777 | frameshift variant | -/CAGG | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150947794 | frameshift variant | G/- | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150947782 | frameshift variant | TCTCCCC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150947512 | splice region variant | -/CTGC | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150947400 | frameshift variant | -/G | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150947380 | frameshift variant | -/CCGCC;CGCC | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 7 | 150947367 | frameshift variant | -/TCGCCCCG | delins | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
7 | 150947344 | frameshift variant | G/- | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150974765 | inframe insertion | -/ATCTGCGCG | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150959670 | frameshift variant | -/CCAC | ins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150952840 | frameshift variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150951578 | frameshift variant | G/- | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150951013 | frameshift variant | G/- | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150974918 | frameshift variant | C/- | del |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
7 | 150974912 | frameshift variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 7 | 150974864 | frameshift variant | A/- | del |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
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 | 0.020 | 1.000 | 2 | 2010 | 2017 | |||||||
|
7 | 150947362 | missense variant | T/C | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||||||
|
0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2010 | 2017 | |||||||
|
0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
0.851 | 0.120 | 7 | 150951629 | missense variant | G/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.120 | 7 | 150951511 | missense variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |