| 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 | 0.120 | 7 | 26832962 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 21 | 33573415 | missense variant | T/A;C | snv | 4.0E-06; 0.32 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 16 | 30159695 | regulatory region variant | T/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 2 | 233260144 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 7 | 29940855 | missense variant | C/A;T | snv | 1.0E-05; 5.2E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 11 | 128536543 | non coding transcript exon variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 19 | 48737757 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 5 | 96784466 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.120 | 1 | 152578800 | downstream gene variant | A/G;T | snv |
|
0.820 | 1.000 | 1 | 2009 | 2011 | |||||||||
|
1.000 | 0.040 | 1 | 152720036 | missense variant | G/A;C | snv | 9.5E-02; 2.6E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 7 | 31642839 | missense variant | C/G;T | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 21 | 44196441 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 2 | 62333197 | regulatory region variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.120 | 16 | 11254001 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.827 | 0.120 | 20 | 44440356 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 1 | 152631366 | intergenic variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.240 | 5 | 96888176 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.120 | 5 | 159337470 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 5 | 159409099 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.120 | 6 | 106026874 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 1 | 155157915 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |