SCN1A, sodium voltage-gated channel alpha subunit 1, 6323
N. diseases: 287; N. variants: 533
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 | 0.040 | 2 | 166046969 | missense variant | C/G;T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 32 | 2003 | 2017 | ||||||||
|
0.851 | 0.080 | 2 | 166037885 | missense variant | C/G;T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 31 | 2003 | 2017 | ||||||||
|
0.851 | 0.040 | 2 | 166058651 | missense variant | C/A;T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 25 | 2003 | 2017 | ||||||||
|
0.827 | 0.080 | 2 | 166037886 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 25 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166058684 | missense variant | A/G | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 24 | 2003 | 2017 | ||||||||
|
0.882 | 0.080 | 2 | 165992333 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 24 | 2002 | 2017 | ||||||||
|
0.882 | 0.040 | 2 | 165991927 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 165992302 | missense variant | G/A;C | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166047725 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
0.925 | 0.040 | 2 | 166052866 | missense variant | A/C | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166051845 | missense variant | A/G | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166002753 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166058652 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
0.882 | 0.080 | 2 | 165992341 | missense variant | C/G;T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 165991928 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166051968 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
0.882 | 0.040 | 2 | 166002588 | missense variant | C/G;T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166043836 | missense variant | T/A;C | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166051906 | missense variant | G/A;T | snv | 3.2E-05 |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | |||||||
|
1.000 | 0.040 | 2 | 166037907 | missense variant | G/A;C | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166037868 | missense variant | A/C | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166013820 | missense variant | G/A;T | snv | 1.6E-05 |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | |||||||
|
1.000 | 0.040 | 2 | 166012210 | missense variant | T/G | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166012128 | missense variant | A/G | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 165999763 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 22 | 2003 | 2017 |