SCN2A, sodium voltage-gated channel alpha subunit 2, 6326
N. diseases: 232; N. variants: 108
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 2 | 165367327 | stop gained | G/A;T | snv |
|
0.800 | 1.000 | 21 | 2009 | 2019 | |||||||||
|
1.000 | 2 | 165389291 | missense variant | C/T | snv |
|
0.700 | 1.000 | 20 | 2009 | 2019 | ||||||||||
|
0.925 | 0.040 | 2 | 165380702 | missense variant | A/C;G | snv |
|
0.800 | 1.000 | 20 | 2009 | 2019 | |||||||||
|
0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 20 | 2009 | 2019 | |||||||||
|
0.925 | 0.040 | 2 | 165389451 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 20 | 2009 | 2019 | |||||||||
|
1.000 | 2 | 165386971 | stop gained | G/A;T | snv |
|
0.700 | 1.000 | 20 | 2009 | 2019 | ||||||||||
|
0.925 | 0.080 | 2 | 165354267 | stop gained | G/A;T | snv |
|
0.800 | 1.000 | 5 | 2013 | 2017 | |||||||||
|
0.925 | 0.080 | 2 | 165342465 | missense variant | G/A | snv |
|
0.800 | 1.000 | 4 | 2013 | 2017 | |||||||||
|
0.925 | 0.080 | 2 | 165309414 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2004 | 2018 | |||||||||
|
0.925 | 0.080 | 2 | 165344666 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2004 | 2018 | |||||||||
|
0.925 | 0.080 | 2 | 165377645 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.925 | 0.080 | 2 | 165308794 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 2 | 165344558 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 2 | 165388685 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 2 | 165388692 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.200 | 2 | 165381114 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 2 | 165373342 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 2 | 165386837 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 2 | 165344679 | missense variant | C/T | snv |
|
0.800 | 0 | ||||||||||||
|
0.925 | 0.040 | 2 | 165374743 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 2 | 165310376 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 2 | 165388782 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 2 | 165388682 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 2 | 165377611 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 2 | 165380718 | stop gained | C/A;G;T | snv |
|
0.700 | 0 |