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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.240 | 19 | 13836482 | non coding transcript exon variant | G/A | snv | 1.2E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
9 | 0.776 | 0.240 | 2 | 216109091 | splice region variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | 17 | 72730105 | intron variant | C/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.120 | 2 | 233656637 | intron variant | A/C;T | snv | 0.730 | 0.750 | 4 | 2010 | 2015 | |||||
|
3 | 0.882 | 0.120 | 19 | 33301681 | missense variant | C/G | snv | 7.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 7 | 55155873 | synonymous variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.160 | 3 | 50331654 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
13 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 0.700 | 0 | |||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.090 | 0.889 | 9 | 2005 | 2013 | |||
|
25 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 1999 | 2001 | ||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 1999 | 2001 | |||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.820 | 1.000 | 4 | 1999 | 2019 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.800 | 0 | ||||||||
|
10 | 0.776 | 0.280 | 10 | 5094459 | missense variant | C/G | snv | 0.50 | 0.45 | 0.020 | 1.000 | 2 | 2011 | 2016 | |||
|
7 | 0.790 | 0.160 | 3 | 9748794 | upstream gene variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
37 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
10 | 0.776 | 0.160 | 11 | 534242 | synonymous variant | A/G | snv | 0.32 | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
11 | 0.742 | 0.240 | 9 | 27969442 | intron variant | C/T | snv | 5.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.200 | 6 | 43782020 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |