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 | 0.120 | 1 | 209706871 | intron variant | -/A | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.851 | 0.160 | 6 | 34242693 | intron variant | -/C | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.030 | 1.000 | 3 | 2007 | 2019 | |||
|
4 | 1.000 | 0.040 | 11 | 116746524 | downstream gene variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 2 | 233698748 | intron variant | A/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 1 | 162368607 | 3 prime UTR variant | A/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 3 | 12428740 | intron variant | A/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 8 | 19958727 | intron variant | A/C | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 11 | 89492920 | intron variant | A/C | snv | 0.81 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
24 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 2 | 27523965 | downstream gene variant | A/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.807 | 0.160 | 7 | 116525306 | missense variant | A/C;G | snv | 0.86 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.040 | 22 | 24627519 | missense variant | A/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 20010875 | intergenic variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
11 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 1.000 | 0.040 | 11 | 116799960 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.020 | 1.000 | 2 | 2006 | 2013 | ||||
|
4 | 1.000 | 0.040 | 11 | 116655605 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2020 | |||||
|
7 | 0.882 | 0.120 | 2 | 27592643 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.925 | 0.200 | 11 | 116741111 | intergenic variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |