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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2007 | 2009 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
29 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
31 | 0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
30 | 0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
24 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.080 | 2 | 47403411 | intron variant | C/A;G;T | snv | 1.9E-05; 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
31 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
11 | 0.742 | 0.160 | 8 | 58500631 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.790 | 0.080 | 11 | 125865825 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
11 | 0.763 | 0.080 | 8 | 23202743 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
36 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.080 | 17 | 78855710 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.080 | 2 | 169637315 | missense variant | A/G | snv | 4.1E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.080 | 17 | 38914448 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.790 | 0.080 | 10 | 94132433 | missense variant | G/C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
7 | 0.790 | 0.080 | 7 | 151078923 | missense variant | C/T | snv | 4.6E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
38 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 |