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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 1 | 150579475 | frameshift variant | -/C | delins | 4.7E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.160 | 17 | 80183976 | missense variant | A/C | snv | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||
|
8 | 0.807 | 0.240 | 5 | 132660808 | 3 prime UTR variant | A/C | snv | 0.67 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
5 | 0.827 | 0.120 | 17 | 27542007 | intron variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 9 | 12483941 | intergenic variant | A/C | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 1 | 67281732 | downstream gene variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 1 | 67238649 | intron variant | A/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 5 | 96824289 | intron variant | A/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.120 | 8 | 125527723 | intron variant | A/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.120 | 17 | 72646784 | 3 prime UTR variant | A/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
23 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.200 | X | 139530726 | upstream gene variant | A/C | snv | 5.5E-06 | 1.9E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 12 | 122160501 | intergenic variant | A/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 8184970 | upstream gene variant | A/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 137717768 | intron variant | A/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 65779386 | synonymous variant | A/C | snv | 0.45 | 0.52 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.120 | 1 | 161504083 | upstream gene variant | A/C | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 20 | 49949528 | intron variant | A/C | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 0.810 | 1.000 | 4 | 2010 | 2018 | ||||
|
12 | 0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 5 | 96783569 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 137797444 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.120 | 6 | 20624151 | intron variant | A/C;G | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 |