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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.909 | 11 | 2000 | 2011 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.050 | 0.800 | 5 | 1998 | 2013 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 1.000 | 4 | 2003 | 2007 | |||||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.020 | 1.000 | 2 | 2002 | 2019 | |||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.776 | 0.080 | 1 | 54780362 | 3 prime UTR variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 225838845 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.776 | 0.080 | 1 | 221939292 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
28 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
12 | 0.776 | 0.080 | 1 | 37990219 | upstream gene variant | G/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.776 | 0.080 | 1 | 183033504 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
26 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
11 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
10 | 0.776 | 0.080 | 2 | 198747683 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.763 | 0.160 | 2 | 191722478 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.742 | 0.320 | 2 | 233693545 | missense variant | A/G | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
9 | 0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
10 | 0.776 | 0.080 | 2 | 218326533 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 2 | 159108040 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 |