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 | 0.700 | 1.000 | 8 | 2003 | 2015 | ||||||||
|
0.851 | 0.080 | 2 | 166037930 | missense variant | C/G;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 8 | 2002 | 2017 | ||||||||
|
0.851 | 0.080 | 2 | 166054677 | missense variant | T/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 7 | 2001 | 2015 | ||||||||
|
0.925 | 0.040 | 2 | 166037931 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 7 | 2002 | 2017 | ||||||||
|
0.925 | 0.040 | 2 | 166047647 | missense variant | A/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 2009 | 2015 | ||||||||
|
0.790 | 0.080 | 2 | 166052869 | missense variant | G/A;C | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 165992006 | missense variant | C/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 4 | 2009 | 2016 | ||||||||
|
0.882 | 0.080 | 2 | 166045081 | stop gained | G/A;C;T | snv | 7.6E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2006 | 2010 | |||||||
|
1.000 | 0.040 | 2 | 166002471 | splice donor variant | C/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.882 | 0.040 | 2 | 166039420 | splice region variant | T/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2007 | 2013 | ||||||||
|
0.851 | 0.040 | 2 | 166054660 | missense variant | C/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2006 | 2010 | ||||||||
|
0.925 | 0.040 | 2 | 166037891 | missense variant | A/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2004 | 2012 | ||||||||
|
1.000 | 0.040 | 2 | 165992108 | missense variant | A/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 166048906 | stop gained | A/C;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 166073357 | splice donor variant | C/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.040 | 2 | 166073405 | inframe insertion | -/ATC | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
0.882 | 0.040 | 2 | 166002537 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2002 | 2014 | ||||||||
|
0.925 | 0.040 | 2 | 166058616 | missense variant | G/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 165991521 | frameshift variant | A/- | del |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 165991678 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 165998061 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 2 | 166036371 | stop gained | G/A;T | snv | 4.1E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 2 | 166002695 | missense variant | C/A;G | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 166013817 | frameshift variant | -/A | delins |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 166058565 | splice region variant | G/C;T | snv |
|
Nervous System Diseases | 0.700 | 0 |