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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 150947362 | missense variant | T/C | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||||||
|
7 | 150950881 | intron variant | C/T | snv | 0.24 | 0.28 |
|
0.700 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
7 | 150960113 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 150947362 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 150961590 | intron variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 150972888 | intron variant | C/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 150971426 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
7 | 150971426 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
7 | 150960007 | intron variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 150948478 | synonymous variant | C/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 7 | 150948855 | splice donor variant | C/T | snv |
|
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 | |||||||||||||
|
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 |