| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 9 | 2006 | 2016 | ||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 9 | 2006 | 2016 | |||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 8 | 2006 | 2016 | |||||||||
|
0.763 | 0.200 | 1 | 221991606 | regulatory region variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 183112059 | intron variant | A/C | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 22261235 | regulatory region variant | T/C | snv | 6.2E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.807 | 0.160 | 1 | 11124517 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 1 | 54782179 | intron variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 1 | 54780362 | 3 prime UTR variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 1 | 22909025 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.776 | 0.080 | 1 | 221939292 | intron variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.708 | 0.280 | 1 | 1351675 | upstream gene variant | G/A | snv | 6.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 1 | 245018119 | intron variant | T/C | snv | 1.5E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 239918447 | upstream gene variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.280 | 1 | 155212052 | non coding transcript exon variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.080 | 1 | 67729450 | intron variant | C/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.080 | 1 | 37990219 | upstream gene variant | G/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 183056420 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.776 | 0.240 | 1 | 11124516 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.120 | 1 | 37995647 | downstream gene variant | C/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |