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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 2 | 165992342 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.030 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
0.790 | 0.080 | 2 | 166052869 | missense variant | G/A;C | snv |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2019 | 2020 | ||||||||
|
0.827 | 0.080 | 2 | 166037886 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2004 | 2011 | ||||||||
|
0.882 | 0.080 | 2 | 165992306 | missense variant | G/A | snv | 7.0E-06 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
0.851 | 0.040 | 2 | 166058651 | missense variant | C/A;T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 2 | 165991927 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.040 | 2 | 166054660 | missense variant | C/A;T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 2 | 166002699 | missense variant | C/A;G | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.851 | 0.080 | 2 | 166037885 | missense variant | C/G;T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.040 | 2 | 165994212 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.080 | 2 | 165992332 | missense variant | C/A;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.080 | 2 | 166052882 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 2 | 166036521 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.080 | 2 | 165992221 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.080 | 2 | 165992333 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.040 | 2 | 165992255 | missense variant | C/G | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 2 | 165991549 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
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 | 2011 | 2011 | ||||||
|
0.851 | 0.040 | 2 | 166009745 | missense variant | C/G | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 2 | 165992009 | missense variant | A/C | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 2 | 165992377 | missense variant | G/A | snv | 4.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.080 | 2 | 166039436 | missense variant | C/T | snv | 8.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.040 | 2 | 166002537 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.040 | 2 | 166012255 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.040 | 2 | 165996021 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |