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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
36 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.860 | 1.000 | 6 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 226376990 | intron variant | T/C | snv | 0.58 | 0.820 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 21 | 41374154 | intron variant | C/T | snv | 0.48 | 0.820 | 1.000 | 2 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 105756594 | intergenic variant | T/C | snv | 7.7E-02 | 0.810 | 1.000 | 1 | 2012 | 2014 | ||||
|
37 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.810 | 1.000 | 1 | 2011 | 2017 | |||
|
1 | 1.000 | 0.040 | 4 | 105218230 | intron variant | T/C | snv | 0.12 | 0.810 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.160 | 9 | 21816529 | intron variant | A/G | snv | 0.50 | 0.810 | 1.000 | 1 | 2009 | 2017 | ||||
|
2 | 0.882 | 0.160 | 20 | 34583968 | intron variant | G/A;C | snv | 0.810 | 0.667 | 1 | 2008 | 2017 | |||||
|
484 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 0.979 | 454 | 2002 | 2020 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.800 | 0.981 | 452 | 2002 | 2020 | |||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.800 | 1.000 | 34 | 2002 | 2020 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.800 | 1.000 | 16 | 1989 | 2019 | |||||
|
38 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.800 | 1.000 | 16 | 1989 | 2019 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.800 | 1.000 | 15 | 2005 | 2019 | |||||
|
11 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 0.800 | 0.938 | 15 | 2001 | 2019 | ||||
|
7 | 0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 | 0.800 | 1.000 | 10 | 1999 | 2016 | ||||
|
29 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.780 | 1.000 | 8 | 1989 | 2016 | |||||
|
9 | 0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv | 0.760 | 1.000 | 6 | 1995 | 2016 | |||||
|
2 | 0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 | 0.750 | 1.000 | 5 | 1995 | 2015 | ||||
|
6 | 0.827 | 0.160 | 19 | 3118944 | missense variant | A/C;T | snv | 0.750 | 1.000 | 5 | 1989 | 2018 | |||||
|
6 | 0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 | 0.750 | 0.833 | 5 | 2008 | 2017 | ||||
|
1 | 0.827 | 0.200 | 12 | 57751647 | missense variant | C/A;T | snv | 0.740 | 0.600 | 4 | 2003 | 2014 | |||||
|
42 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.740 | 1.000 | 4 | 1989 | 2016 | ||||
|
11 | 0.790 | 0.160 | 9 | 77794572 | missense variant | T/A;C;G | snv | 0.740 | 1.000 | 4 | 1989 | 2018 | |||||
|
12 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.730 | 1.000 | 3 | 2008 | 2014 |