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 | 0.776 | 0.120 | 14 | 73170945 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.020 | 1.000 | 2 | 2007 | 2016 | ||||
|
9 | 0.763 | 0.160 | 21 | 25891796 | missense variant | C/T | snv | 9.5E-05 | 6.3E-05 | 0.020 | 1.000 | 2 | 2004 | 2017 | |||
|
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 | |||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
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 | ||||
|
9 | 0.776 | 0.200 | 5 | 179836445 | missense variant | C/T | snv | 9.8E-04 | 1.3E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.790 | 0.320 | 6 | 41161557 | stop gained | G/A | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
19 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 14 | 73192667 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.851 | 0.160 | 19 | 11111624 | missense variant | G/A | snv | 4.3E-02 | 8.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
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 | |||||
|
10 | 0.752 | 0.200 | 9 | 35065255 | missense variant | C/T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.763 | 0.120 | 21 | 26051171 | missense variant | T/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.160 | 19 | 44905894 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
20 | 0.689 | 0.600 | 19 | 51693200 | non coding transcript exon variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.827 | 0.200 | 19 | 15192242 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |