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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 0.500 | 2 | 2007 | 2011 | |||||
|
5 | 0.851 | 0.160 | 1 | 11109318 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 2 | 127634972 | non coding transcript exon variant | A/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 8 | 127877125 | intron variant | A/C | snv | 0.53 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
20 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 15 | 66436613 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 6 | 39832238 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.882 | 0.120 | 9 | 79507370 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.827 | 0.160 | 7 | 116777410 | missense variant | A/C;G | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
12 | 0.763 | 0.360 | 17 | 7675191 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
21 | 0.695 | 0.280 | 17 | 7674873 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.240 | 3 | 10142079 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
13 | 0.742 | 0.360 | 17 | 7673805 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.724 | 0.240 | 17 | 7675086 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.040 | 0.750 | 4 | 2017 | 2018 | |||||
|
21 | 0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
38 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
6 | 0.882 | 0.120 | 12 | 26300350 | intron variant | A/G | snv | 0.27 | 0.840 | 0.833 | 6 | 2012 | 2019 |