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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.120 | 6 | 30133199 | upstream gene variant | TT/-;T;TTT;TTTT | delins | 0.14 | 0.710 | < 0.001 | 1 | 2018 | 2018 | ||||
|
13 | 0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 | 0.830 | 1.000 | 7 | 2007 | 2019 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.070 | 0.571 | 7 | 2008 | 2015 | ||||
|
5 | 0.851 | 0.200 | 12 | 56018703 | intron variant | T/G | snv | 0.25 | 0.830 | 1.000 | 4 | 2008 | 2013 | ||||
|
4 | 0.851 | 0.240 | 16 | 11075826 | intron variant | T/G | snv | 0.42 | 0.740 | 1.000 | 4 | 2007 | 2013 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 30364778 | upstream gene variant | T/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.200 | 6 | 32867481 | regulatory region variant | T/G | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.240 | 10 | 18451155 | intron variant | T/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 12 | 9703362 | upstream gene variant | T/G | snv | 0.42 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.240 | 12 | 21304500 | missense variant | T/G | snv | 4.5E-02 | 4.4E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.120 | 1 | 113859282 | intron variant | T/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 3 | 105681480 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 2 | 100147625 | intron variant | T/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.320 | 6 | 32437101 | upstream gene variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 6 | 30760583 | intron variant | T/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 6 | 32713899 | upstream gene variant | T/G | snv | 0.96 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
14 | 0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.160 | 6 | 29211460 | upstream gene variant | T/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.200 | 6 | 31636267 | missense variant | T/G | snv | 0.96 | 0.95 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.851 | 0.280 | 6 | 31344549 | intron variant | T/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.807 | 0.240 | 4 | 122448621 | downstream gene variant | T/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 11 | 2159830 | missense variant | T/G | snv | 0.73 | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |