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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.160 | 20 | 1629905 | intron variant | T/A;C | snv | 0.820 | 1.000 | 3 | 2009 | 2019 | |||||
|
8 | 0.807 | 0.200 | 22 | 37195278 | intron variant | G/A | snv | 0.49 | 0.810 | 1.000 | 3 | 2008 | 2015 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.800 | 1.000 | 3 | 2009 | 2015 | ||||
|
8 | 0.790 | 0.320 | 6 | 32636595 | intron variant | G/A | snv | 0.54 | 0.810 | 1.000 | 3 | 2007 | 2015 | ||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.020 | 0.500 | 2 | 2006 | 2018 | ||||
|
2 | 0.925 | 0.120 | 6 | 32830954 | intron variant | C/G;T | snv | 0.28 | 0.800 | 1.000 | 2 | 2007 | 2015 | ||||
|
2 | 0.925 | 0.160 | 10 | 88263276 | upstream gene variant | T/C | snv | 0.25 | 0.810 | 1.000 | 2 | 2009 | 2012 | ||||
|
8 | 0.827 | 0.240 | 9 | 4292083 | intron variant | G/A | snv | 0.45 | 0.710 | 0.500 | 2 | 2011 | 2017 | ||||
|
10 | 0.807 | 0.320 | 12 | 56076841 | 5 prime UTR variant | C/T | snv | 0.49 | 0.810 | 1.000 | 2 | 2007 | 2011 | ||||
|
11 | 0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 | 0.800 | 1.000 | 2 | 2007 | 2015 | ||||
|
5 | 0.851 | 0.200 | 10 | 6055320 | intron variant | T/C | snv | 7.0E-02 | 0.710 | 1.000 | 2 | 2011 | 2019 | ||||
|
25 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
3 | 0.882 | 0.240 | 16 | 11100914 | intron variant | C/A;T | snv | 0.29 | 0.800 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.200 | 4 | 186073024 | intron variant | G/A | snv | 0.21 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
7 | 0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | < 0.001 | 2 | 2013 | 2019 | |||||
|
6 | 0.827 | 0.280 | 4 | 122408207 | intron variant | G/A | snv | 0.20 | 0.020 | 0.500 | 2 | 2010 | 2019 | ||||
|
6 | 0.851 | 0.240 | 6 | 53545239 | intron variant | G/A;T | snv | 6.2E-02 | 0.020 | 1.000 | 2 | 2011 | 2019 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
10 | 0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 | 0.800 | 1.000 | 2 | 2007 | 2015 | ||||
|
23 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 0.710 | 1.000 | 2 | 2011 | 2013 | ||||
|
17 | 0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 | 0.710 | 1.000 | 2 | 2011 | 2015 | ||||
|
5 | 0.827 | 0.240 | 6 | 31396930 | upstream gene variant | G/A | snv | 0.24 | 0.800 | 1.000 | 2 | 2007 | 2015 | ||||
|
9 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.810 | 1.000 | 2 | 2009 | 2016 |