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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.160 | 3 | 37042267 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
23 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
31 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.827 | 0.200 | 2 | 238246412 | missense variant | C/T | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.882 | 0.200 | 7 | 6003794 | splice acceptor variant | T/A;C;G | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 12 | 27963693 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
35 | 0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
34 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
7 | 1.000 | 0.120 | 17 | 7674965 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
23 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 0.010 | 1.000 | 1 | 2008 | 2008 |