| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 5 | 2010 | 2017 | |||||||||
|
0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 4 | 2010 | 2017 | |||||||||
|
0.925 | 0.040 | 10 | 99524480 | upstream gene variant | T/A;G | snv |
|
0.820 | 1.000 | 4 | 2010 | 2019 | |||||||||
|
0.807 | 0.160 | 5 | 159400761 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 4 | 2015 | 2019 | |||||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.850 | 1.000 | 3 | 2008 | 2016 | |||||||||
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.800 | 1.000 | 3 | 2010 | 2016 | ||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.827 | 0.120 | 20 | 59249254 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.827 | 0.120 | 6 | 21430497 | intergenic variant | TAG/CAT | mnv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.851 | 0.160 | 6 | 105987394 | regulatory region variant | G/A;C | snv |
|
0.810 | 1.000 | 3 | 2008 | 2017 | |||||||||
|
0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 2 | 2007 | 2016 | |||||||||
|
1.000 | 0.040 | 10 | 110426390 | downstream gene variant | C/G;T | snv |
|
0.810 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
1.000 | 0.040 | 19 | 10402235 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
1.000 | 0.040 | 10 | 58153390 | regulatory region variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.827 | 0.120 | 10 | 73909432 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv |
|
0.820 | 1.000 | 2 | 2008 | 2016 | |||||||||
|
1.000 | 0.040 | 17 | 34266955 | upstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2012 | 2017 | |||||||||
|
1.000 | 0.040 | 1 | 155260340 | synonymous variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 |
|
0.700 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 1 | 160887174 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
1.000 | 0.040 | 16 | 50722863 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 2 | 2007 | 2014 | |||||||||
|
0.925 | 0.040 | 22 | 30097893 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.827 | 0.120 | 13 | 43910570 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2016 |