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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.050 | 1.000 | 5 | 2012 | 2018 | |||
|
59 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
55 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
37 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
37 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.810 | 1.000 | 2 | 2013 | 2014 | |||
|
34 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 |