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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.851 | 0.200 | 2 | 47403192 | start lost | A/C;G;T | snv | 5.1E-05; 1.4E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
5 | 1.000 | 0.120 | 7 | 6002584 | start lost | T/A;C | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
14 | 0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
8 | 0.925 | 0.200 | 3 | 36993548 | start lost | A/C;G | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
10 | 0.851 | 0.200 | 7 | 6009019 | start lost | T/A;C;G | snv | 4.0E-06; 2.8E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
6 | 1.000 | 0.120 | 2 | 47403390 | start lost | A/G | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
5 | 1.000 | 0.120 | 3 | 37001037 | start lost | A/G | snv | 2.4E-04 | 3.5E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
5 | 1.000 | 0.120 | 7 | 5992027 | missense variant | T/A;C | snv | 4.0E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
9 | 0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
9 | 0.851 | 0.360 | 19 | 544072 | start lost | A/C;G | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
7 | 0.882 | 0.360 | 19 | 547342 | start lost | A/G | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 1.000 | 23 | 2003 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 21 | 2003 | 2019 | |||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.740 | 1.000 | 5 | 1999 | 2005 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 1.000 | 3 | 2010 | 2015 | ||||
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.710 | 1.000 | 3 | 1999 | 2001 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2018 | ||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 2003 | 2005 | |||||
|
59 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 0.020 | 1.000 | 2 | 2012 | 2014 | |||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 2003 | 2005 | |||
|
50 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2010 |