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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.020 | 1.000 | 2 | 2012 | 2012 | |||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.030 | 0.667 | 3 | 2014 | 2016 | |||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2008 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.710 | 1.000 | 2 | 2004 | 2016 | ||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
25 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
23 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
28 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
19 | 0.708 | 0.520 | 19 | 10156401 | synonymous variant | T/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
26 | 0.683 | 0.480 | 17 | 47283364 | missense variant | T/C | snv | 0.12 | 0.13 | 0.030 | 0.667 | 3 | 2005 | 2010 | |||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.020 | 1.000 | 2 | 2010 | 2010 |