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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.080 | 9 | 77794572 | missense variant | TG/AA | mnv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
11 | 0.790 | 0.160 | 9 | 77794572 | missense variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
26 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
9 | 0.827 | 0.120 | 2 | 25269598 | intron variant | A/G | snv | 0.31 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
32 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
1 | 5 | 138557977 | missense variant | G/A | snv | 6.0E-05 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
38 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 5 | 138570994 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 11 | 18934156 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.080 | 2 | 168995422 | missense variant | T/C | snv | 8.1E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.080 | 6 | 53041202 | missense variant | T/A;C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
36 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
11 | 0.776 | 0.200 | X | 71129408 | missense variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2013 | 2016 | |||||
|
27 | 0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 2002 | 2003 | ||||
|
7 | 0.827 | 0.080 | 16 | 48224287 | missense variant | C/G;T | snv | 4.0E-06; 0.22 | 0.13 | 0.020 | 0.500 | 2 | 2011 | 2019 | |||
|
30 | 0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 | 0.020 | 0.500 | 2 | 2010 | 2017 | |||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.020 | 0.500 | 2 | 2011 | 2015 | |||
|
13 | 0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 | 0.020 | 0.500 | 2 | 2002 | 2003 | ||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.030 | 0.667 | 3 | 2012 | 2016 |