KCNA5, potassium voltage-gated channel subfamily A member 5, 3741
N. diseases: 73; N. variants: 10
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 | 0.080 | 12 | 5045270 | stop gained | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 12 | 5045874 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 12 | 5045975 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 12 | 5045045 | missense variant | G/A;C;T | snv | 2.5E-04; 8.1E-06; 4.1E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 12 | 5044290 | missense variant | A/G | snv | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 12 | 5043783 | upstream gene variant | C/T | snv | 0.88 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 12 | 5043783 | upstream gene variant | C/T | snv | 0.88 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 12 | 5045727 | missense variant | C/T | snv | 1.4E-04 | 4.9E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.925 | 0.080 | 12 | 5045975 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
12 | 5044419 | missense variant | C/T | snv | 4.4E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.080 | 12 | 5044611 | missense variant | A/G | snv | 7.2E-05 | 7.0E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
12 | 5044245 | missense variant | A/T | snv | 2.4E-04 | 2.0E-04 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2007 | 2007 |