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 | 0.925 | 0.120 | 1 | 15327376 | non coding transcript exon variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 9 | 114011589 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 6 | 37677736 | intron variant | T/C | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 15 | 89777808 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 10 | 20879174 | intron variant | C/G | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 13 | 19181923 | upstream gene variant | T/C | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 5 | 114463289 | intron variant | C/T | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 18 | 44733745 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 5 | 135459219 | downstream gene variant | G/A | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
11 | 0.776 | 0.200 | 1 | 156899922 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.240 | 6 | 33670403 | synonymous variant | C/A;T | snv | 4.0E-06; 0.33 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.827 | 0.320 | 6 | 31513328 | upstream gene variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.776 | 0.280 | 19 | 3595796 | missense variant | A/G | snv | 0.56 | 0.66 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.827 | 0.200 | 1 | 230714140 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.160 | 3 | 151371438 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |