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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 2 | 166142257 | intron variant | C/A;G;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 166038556 | intron variant | A/T | snv | 0.74 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.776 | 0.240 | 2 | 166053034 | splice region variant | C/T | snv | 0.48 |
|
Nervous System Diseases | 0.060 | 1.000 | 6 | 2013 | 2018 | |||||||
|
0.790 | 0.080 | 2 | 165992332 | missense variant | C/A;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.925 | 0.040 | 2 | 166036278 | missense variant | C/T | snv | 0.73 | 0.74 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2017 | ||||||
|
1.000 | 0.040 | 2 | 166036257 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2009 | 2017 | ||||||
|
0.925 | 0.080 | 2 | 165992307 | missense variant | G/C;T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.040 | 2 | 166002588 | missense variant | C/G;T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 2 | 165998049 | missense variant | G/T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.080 | 2 | 166041277 | missense variant | T/A;C | snv | 1.6E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.752 | 0.120 | 2 | 166015636 | missense variant | G/C | snv | 1.7E-03 | 1.6E-03 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.851 | 0.040 | 2 | 166009745 | missense variant | C/G | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166073566 | missense variant | C/T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 2 | 166037822 | missense variant | A/G | snv | 4.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |