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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 18 | 12843138 | intron variant | T/C | snv | 0.17 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
5 | 0.882 | 0.200 | 10 | 79298270 | intron variant | A/C;G | snv | 0.800 | 1.000 | 2 | 2010 | 2011 | |||||
|
3 | 0.882 | 0.200 | 2 | 102355405 | intron variant | G/T | snv | 0.77 | 0.810 | 1.000 | 2 | 2008 | 2009 | ||||
|
8 | 0.807 | 0.280 | 4 | 122297158 | intron variant | A/G | snv | 0.10 | 0.710 | 1.000 | 2 | 2007 | 2008 | ||||
|
6 | 0.807 | 0.160 | 4 | 122629959 | intron variant | A/G | snv | 0.10 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 0.925 | 0.200 | X | 153982797 | synonymous variant | G/A | snv | 0.27 | 0.15 | 0.800 | 1.000 | 2 | 2011 | 2012 | |||
|
9 | 0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2008 | 2010 | |||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.020 | 1.000 | 2 | 2006 | 2008 | |||
|
1 | 1.000 | 0.080 | 6 | 159048542 | intron variant | A/G | snv | 0.49 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
12 | 0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
8 | 0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2011 | 2014 | |||||
|
20 | 0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 | 0.800 | 1.000 | 2 | 2007 | 2010 | ||||
|
10 | 0.776 | 0.360 | 19 | 17203024 | non coding transcript exon variant | G/A | snv | 0.52 | 0.50 | 0.020 | 1.000 | 2 | 2007 | 2010 | |||
|
10 | 0.790 | 0.320 | 6 | 137651931 | intergenic variant | A/G | snv | 0.16 | 0.810 | 1.000 | 2 | 2009 | 2010 | ||||
|
1 | 1.000 | 0.080 | 10 | 6348230 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2012 | |||||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
2 | 1.000 | 0.080 | 13 | 50261579 | intron variant | C/T | snv | 0.15 | 0.810 | 1.000 | 2 | 2010 | 2014 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.810 | 1.000 | 2 | 2011 | 2015 | ||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.020 | 1.000 | 2 | 2011 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 2607961 | intron variant | T/C | snv | 0.41 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
4 | 0.851 | 0.240 | 22 | 21625000 | downstream gene variant | T/C | snv | 0.19 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 1.000 | 2 | 2006 | 2006 | |||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 61326191 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2010 | 2016 |