Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 13 | 2011 | 2017 | |||||||
|
0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 13 | 2010 | 2017 | |||||||
|
0.925 | 0.120 | 5 | 251100 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 |
|
0.700 | 1.000 | 10 | 1995 | 2017 | |||||||
|
0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 9 | 2011 | 2016 | |||||||
|
0.882 | 0.120 | 5 | 251439 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.800 | 1.000 | 8 | 2010 | 2017 | |||||||
|
1.000 | 5 | 251427 | missense variant | C/G;T | snv | 2.4E-05; 4.0E-06 |
|
0.700 | 1.000 | 7 | 2011 | 2018 | |||||||||
|
0.882 | 0.120 | 5 | 251439 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 1.000 | 7 | 2009 | 2014 | |||||||
|
0.882 | 0.120 | 5 | 251439 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 1.000 | 7 | 2010 | 2017 | |||||||
|
0.925 | 0.080 | 5 | 218356 | start lost | A/C;G;T | snv | 8.7E-06 |
|
0.700 | 1.000 | 5 | 2000 | 2016 | ||||||||
|
0.925 | 0.080 | 5 | 218356 | start lost | A/C;G;T | snv | 8.7E-06 |
|
0.700 | 1.000 | 5 | 2000 | 2016 | ||||||||
|
0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 4 | 2010 | 2017 | |||||||
|
0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 4 | 2010 | 2017 | |||||||
|
0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 4 | 2010 | 2017 | |||||||
|
0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 4 | 2010 | 2017 | |||||||
|
0.851 | 0.200 | 5 | 218357 | start lost | T/A;C;G | snv | 8.7E-06; 8.7E-06 |
|
0.700 | 1.000 | 4 | 2000 | 2016 | ||||||||
|
0.851 | 0.200 | 5 | 218357 | start lost | T/A;C;G | snv | 8.7E-06; 8.7E-06 |
|
0.700 | 1.000 | 4 | 2000 | 2016 | ||||||||
|
0.925 | 0.120 | 5 | 251011 | missense variant | C/T | snv |
|
0.700 | 1.000 | 3 | 1995 | 2015 | |||||||||
|
5 | 230923 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 5 | 225880 | splice acceptor variant | AGC/- | delins | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.925 | 0.080 | 5 | 225880 | splice acceptor variant | AGC/- | delins | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.925 | 0.080 | 5 | 223569 | splice donor variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||
|
0.925 | 0.080 | 5 | 223569 | splice donor variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||
|
0.925 | 0.080 | 5 | 228184 | splice acceptor variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.925 | 0.080 | 5 | 228184 | splice acceptor variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.925 | 0.080 | 5 | 240459 | stop gained | C/T | snv | 3.2E-05 | 4.9E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2015 |