KCNE2, potassium voltage-gated channel subfamily E regulatory subunit 2, 9992
N. diseases: 66; N. variants: 14
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 21 | 34370639 | missense variant | T/C | snv | 2.6E-04 | 2.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 4 | 1999 | 2009 | ||||||
|
1.000 | 0.120 | 21 | 34370648 | missense variant | T/C | snv | 1.1E-03 | 6.1E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 4 | 1999 | 2009 | ||||||
|
0.882 | 0.120 | 21 | 34370557 | missense variant | C/A;T | snv | 4.0E-06; 1.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.120 | 21 | 34370707 | missense variant | C/T | snv | 6.4E-05 | 4.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 4 | 1999 | 2009 | ||||||
|
1.000 | 0.120 | 21 | 34370537 | missense variant | T/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 4 | 1999 | 2009 | ||||||||
|
1.000 | 0.120 | 21 | 34370671 | missense variant | G/A;C | snv | 2.0E-05; 2.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 4 | 1999 | 2009 | |||||||
|
1.000 | 0.120 | 21 | 34370708 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 4 | 1999 | 2009 | ||||||
|
1.000 | 0.120 | 21 | 34370759 | missense variant | A/G | snv | 1.0E-04 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 4 | 1999 | 2009 | ||||||
|
21 | 34366284 | intron variant | C/G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
21 | 34363867 | intron variant | G/A | snv | 0.51 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 21 | 34370557 | missense variant | C/A;T | snv | 4.0E-06; 1.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.120 | 21 | 34370518 | missense variant | G/A;C | snv | 1.9E-04; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 21 | 34370558 | missense variant | G/A | snv | 6.4E-05 | 2.4E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 21 | 34370656 | missense variant | T/A;C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 21 | 34370656 | missense variant | T/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 21 | 34370639 | missense variant | T/C | snv | 2.6E-04 | 2.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 21 | 34370671 | missense variant | G/A;C | snv | 2.0E-05; 2.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1.000 | 0.080 | 21 | 34370507 | missense variant | C/T | snv | 2.5E-04 | 2.4E-04 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.080 | 21 | 34370507 | missense variant | C/T | snv | 2.5E-04 | 2.4E-04 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.080 | 21 | 34370507 | missense variant | C/T | snv | 2.5E-04 | 2.4E-04 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.080 | 21 | 34370507 | missense variant | C/T | snv | 2.5E-04 | 2.4E-04 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.120 | 21 | 34370639 | missense variant | T/C | snv | 2.6E-04 | 2.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.882 | 0.120 | 21 | 34370557 | missense variant | C/A;T | snv | 4.0E-06; 1.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 |