SCN5A, sodium voltage-gated channel alpha subunit 5, 6331
N. diseases: 216; N. variants: 504
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 | 3 | 38554309 | missense variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.800 | 1.000 | 6 | 2001 | 2013 | ||||||||
|
0.925 | 0.120 | 3 | 38609776 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 7 | 2001 | 2013 | ||||||
|
0.882 | 0.120 | 3 | 38604062 | missense variant | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2001 | 2013 | ||||||||
|
0.742 | 0.120 | 3 | 38566426 | missense variant | C/A;T | snv | 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2001 | 2013 | |||||||
|
0.827 | 0.120 | 3 | 38622401 | stop gained | C/A;G;T | snv | 4.1E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2001 | 2013 | |||||||
|
0.827 | 0.160 | 3 | 38613773 | missense variant | G/A | snv | 1.2E-05 | 8.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2001 | 2013 | ||||||
|
1.000 | 0.080 | 3 | 38604067 | missense variant | G/A | snv | 4.4E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2001 | 2013 | |||||||
|
0.882 | 0.120 | 3 | 38597737 | stop gained | C/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2001 | 2013 | |||||||
|
0.882 | 0.120 | 3 | 38566555 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2001 | 2013 | ||||||||
|
0.827 | 0.120 | 3 | 38551513 | missense variant | G/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2001 | 2013 | |||||||
|
0.763 | 0.120 | 3 | 38606710 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.790 | 0.120 | 3 | 38604035 | missense variant | G/A;T | snv | 8.4E-06; 4.2E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 38562413 | splice donor variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.732 | 0.120 | 3 | 38613781 | missense variant | C/A;T | snv | 4.1E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.763 | 0.120 | 3 | 38550500 | stop gained | G/A | snv | 4.5E-05 | 4.9E-05 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.700 | 0 |