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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.080 | 0.750 | 8 | 2005 | 2014 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.080 | 0.750 | 8 | 2005 | 2014 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.080 | 0.750 | 8 | 2005 | 2014 | |||||
|
29 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2015 | ||||
|
15 | 0.763 | 0.160 | 17 | 42554888 | missense variant | G/A;C;T | snv | 0.56; 9.0E-05; 1.4E-05 | 0.030 | 1.000 | 3 | 2004 | 2015 | ||||
|
2 | 0.925 | 0.080 | 11 | 101034325 | 3 prime UTR variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2009 | 2013 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
8 | 0.807 | 0.160 | 15 | 74720646 | missense variant | G/A;T | snv | 1.6E-05; 3.1E-02 | 0.020 | < 0.001 | 2 | 2007 | 2011 | ||||
|
15 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
10 | 0.790 | 0.240 | 15 | 51242350 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2016 | |||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 0.851 | 0.120 | 3 | 133600730 | 3 prime UTR variant | G/- | del | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 14 | 65093799 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 16 | 28623160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.882 | 0.120 | 14 | 104775122 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.776 | 0.160 | 10 | 121520052 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |