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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.100 | 0.875 | 16 | 1998 | 2019 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.900 | 0.917 | 12 | 2007 | 2015 | ||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.070 | 0.714 | 7 | 2008 | 2019 | ||||
|
10 | 0.752 | 0.360 | 10 | 6059750 | intron variant | T/A;C | snv | 0.070 | 1.000 | 7 | 2007 | 2017 | |||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.820 | 1.000 | 6 | 2009 | 2018 | ||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.050 | 1.000 | 5 | 2008 | 2015 | |||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 1996 | 2008 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.040 | 0.750 | 4 | 2007 | 2019 | |||||
|
14 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 0.030 | 0.667 | 3 | 2006 | 2009 | ||||
|
9 | 0.763 | 0.360 | 6 | 32584333 | missense variant | C/G | snv | 1.3E-05 | 0.030 | 1.000 | 3 | 1998 | 2003 | ||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.030 | 1.000 | 3 | 2003 | 2004 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.030 | 1.000 | 3 | 2008 | 2008 | |||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.030 | 1.000 | 3 | 2013 | 2017 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.030 | 1.000 | 3 | 2012 | 2019 | ||||
|
4 | 0.925 | 0.160 | 20 | 1629905 | intron variant | T/A;C | snv | 0.820 | 1.000 | 3 | 2009 | 2019 | |||||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.030 | 0.667 | 3 | 2004 | 2012 | ||||
|
16 | 0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
25 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
7 | 0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | < 0.001 | 2 | 2013 | 2019 | |||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.020 | 1.000 | 2 | 2006 | 2007 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 1.000 | 0.120 | 2 | 162277580 | stop gained | C/A;G;T | snv | 3.2E-03; 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
2 | 1.000 | 0.120 | 1 | 238590616 | intergenic variant | T/A;C | snv | 0.720 | 0.500 | 2 | 2018 | 2020 |