Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.320 | 8 | 99717219 | missense variant | T/G | snv | 0.800 | 1.000 | 6 | 2003 | 2009 | |||||
|
1 | 1.000 | 0.320 | 8 | 99784394 | missense variant | G/A | snv | 0.800 | 1.000 | 6 | 2003 | 2009 | |||||
|
1 | 1.000 | 0.320 | 8 | 99818473 | missense variant | T/C | snv | 0.800 | 1.000 | 6 | 2003 | 2009 | |||||
|
1 | 1.000 | 0.320 | 8 | 99820031 | missense variant | A/G | snv | 3.2E-03 | 3.9E-03 | 0.800 | 1.000 | 6 | 2003 | 2009 | |||
|
1 | 1.000 | 0.320 | 8 | 99720944 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 6 | 2003 | 2009 | |||
|
1 | 1.000 | 0.320 | 8 | 99717374 | splice donor variant | G/A;T | snv | 4.0E-05 | 7.0E-05 | 0.700 | 1.000 | 6 | 2004 | 2015 | |||
|
1 | 1.000 | 0.320 | 8 | 99442617 | stop gained | C/T | snv | 4.0E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 2007 | 2010 | |||
|
1 | 1.000 | 0.320 | 8 | 99818529 | stop gained | C/T | snv | 1.6E-05 | 0.700 | 1.000 | 4 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.320 | 8 | 99832368 | splice acceptor variant | G/A;C;T | snv | 0.700 | 1.000 | 4 | 2004 | 2014 | |||||
|
1 | 1.000 | 0.320 | 8 | 99720973 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2003 | 2015 | |||
|
1 | 1.000 | 0.320 | 8 | 99275256 | splice donor variant | T/C;G | snv | 8.0E-06; 1.2E-05 | 0.700 | 1.000 | 3 | 2004 | 2010 | ||||
|
1 | 1.000 | 0.320 | 8 | 99818712 | splice acceptor variant | G/T | snv | 0.700 | 1.000 | 3 | 2004 | 2010 | |||||
|
1 | 1.000 | 0.320 | 8 | 99871446 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 3 | 2004 | 2010 | |||||
|
1 | 1.000 | 0.320 | 8 | 99766972 | splice donor variant | T/C | snv | 0.700 | 1.000 | 3 | 2004 | 2010 | |||||
|
1 | 1.000 | 0.320 | 8 | 99156609 | stop gained | C/A;T | snv | 1.2E-05; 8.0E-06 | 0.700 | 1.000 | 3 | 2003 | 2010 | ||||
|
1 | 1.000 | 0.320 | 8 | 99641938 | frameshift variant | -/AG | delins | 0.700 | 1.000 | 3 | 2003 | 2010 | |||||
|
10 | 0.925 | 0.360 | 8 | 99868312 | stop gained | C/T | snv | 2.1E-05 | 0.700 | 1.000 | 3 | 2004 | 2015 | ||||
|
1 | 1.000 | 0.320 | 8 | 99521012 | splice donor variant | T/C | snv | 0.700 | 1.000 | 3 | 2009 | 2014 | |||||
|
1 | 1.000 | 0.320 | 8 | 99556655 | splice donor variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2004 | 2010 | ||||
|
1 | 1.000 | 0.320 | 8 | 99875503 | frameshift variant | CCAGCTGTTCT/G | delins | 0.700 | 1.000 | 3 | 2004 | 2016 | |||||
|
1 | 1.000 | 0.320 | 8 | 99511275 | stop gained | G/T | snv | 8.0E-06 | 3.5E-05 | 0.700 | 1.000 | 2 | 2004 | 2007 | |||
|
1 | 1.000 | 0.320 | 8 | 99102976 | stop gained | C/T | snv | 2.0E-05 | 7.7E-05 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||
|
1 | 1.000 | 0.320 | 8 | 99135674 | stop gained | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2004 | 2006 | |||
|
1 | 1.000 | 0.320 | 8 | 99556552 | stop gained | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2006 | 2011 | |||||
|
9 | 0.925 | 0.320 | 8 | 99853469 | frameshift variant | -/A | delins | 0.700 | 1.000 | 2 | 2012 | 2016 |