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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 | 0.030 | 1.000 | 3 | 2005 | 2015 | ||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.030 | 1.000 | 3 | 2009 | 2016 | |||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.030 | 1.000 | 3 | 2015 | 2018 | |||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.030 | 1.000 | 3 | 2009 | 2012 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | 1.000 | 3 | 2009 | 2016 | |||||
|
11 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2013 | 2019 | |||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
37 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
24 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 1.000 | 0.080 | 6 | 160348669 | missense variant | C/T | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
9 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 0.500 | 2 | 2009 | 2011 | |||
|
4 | 0.925 | 0.120 | 7 | 140800651 | intron variant | T/A | snv | 1.5E-02 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
24 | 0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2008 | 2016 | |||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
3 | 0.882 | 0.080 | 14 | 36517378 | missense variant | G/A | snv | 1.7E-04 | 8.4E-05 | 0.020 | 1.000 | 2 | 2009 | 2015 | |||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.020 | < 0.001 | 2 | 2012 | 2015 | ||||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2004 | 2005 | ||||
|
2 | 1.000 | 0.080 | 10 | 46009499 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2012 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 1.000 | 2 | 2016 | 2018 |