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 | 166051705 | intron variant | A/C | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 165999764 | stop gained | C/A;G;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 21 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166039577 | stop gained | G/C | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 21 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166039476 | stop gained | C/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 21 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 166037862 | stop gained | C/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 21 | 2003 | 2017 | ||||||||
|
0.925 | 0.040 | 2 | 165996053 | stop gained | A/C;G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 20 | 2003 | 2017 | ||||||||
|
0.827 | 0.080 | 2 | 166052882 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 9 | 2001 | 2015 | ||||||||
|
0.882 | 0.080 | 2 | 166042334 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 6 | 2006 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 166037787 | stop gained | C/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 2003 | 2013 | ||||||||
|
0.851 | 0.080 | 2 | 166043875 | stop gained | G/A;T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 2006 | 2015 | |||||||
|
1.000 | 0.040 | 2 | 165991619 | stop gained | G/A;T | snv | 8.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 4 | 2006 | 2015 | |||||||
|
0.882 | 0.040 | 2 | 166012255 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2003 | 2015 | ||||||||
|
0.882 | 0.160 | 2 | 166013812 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2003 | 2015 | ||||||||
|
0.882 | 0.080 | 2 | 165996047 | stop gained | G/A;C;T | snv | 2.0E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2002 | 2015 | |||||||
|
1.000 | 0.040 | 2 | 165992369 | stop gained | G/A;T | snv | 1.6E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||||
|
1.000 | 0.040 | 2 | 166002740 | stop gained | G/A;T | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 166009736 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 2 | 165991839 | stop gained | C/G;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.882 | 0.080 | 2 | 166045081 | stop gained | G/A;C;T | snv | 7.6E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 2 | 165991739 | stop gained | T/A;C | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 2 | 166039428 | stop gained | G/A;C;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 2 | 166036371 | stop gained | G/A;T | snv | 4.1E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 2 | 166073501 | stop gained | T/A;C | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.040 | 2 | 166038129 | stop gained | G/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 165999759 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 |