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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.060 | 1.000 | 6 | 2011 | 2019 | ||||
|
32 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 0.050 | 1.000 | 5 | 1995 | 2017 | |||||
|
30 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 0.040 | 1.000 | 4 | 2003 | 2014 | ||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 1999 | 2017 | |||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2017 | 2018 | |||||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.030 | 1.000 | 3 | 2010 | 2017 | ||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.030 | 1.000 | 3 | 2000 | 2016 | |||||
|
7 | 0.827 | 0.120 | 17 | 45996657 | missense variant | G/T | snv | 0.030 | 1.000 | 3 | 2003 | 2006 | |||||
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.030 | 1.000 | 3 | 1999 | 2015 | ||||
|
11 | 0.827 | 0.160 | 18 | 31595184 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||
|
5 | 0.827 | 0.080 | 1 | 226885546 | missense variant | C/G;T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2003 | 2005 | ||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
8 | 0.776 | 0.120 | 14 | 73170945 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.020 | 1.000 | 2 | 2007 | 2016 | ||||
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2006 | 2008 | |||||
|
5 | 0.851 | 0.120 | 17 | 46014286 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2002 | 2003 | |||||
|
8 | 0.776 | 0.200 | 21 | 25891855 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.020 | 0.500 | 2 | 2014 | 2015 | ||||
|
7 | 0.790 | 0.120 | 14 | 73173646 | missense variant | T/A | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2008 | ||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
3 | 0.882 | 0.080 | 12 | 54182178 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
17 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.752 | 0.200 | 9 | 35065364 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |