| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.810 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | |||||||
|
0.827 | 0.280 | 4 | 10000237 | intron variant | G/A | snv | 0.72 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 88080741 | downstream gene variant | A/G | snv | 8.2E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.882 | 0.200 | 4 | 88133515 | intron variant | A/G | snv | 8.7E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.925 | 0.120 | 10 | 59707424 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
0.925 | 0.120 | 4 | 1632779 | intron variant | T/C | snv | 9.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 19 | 23212515 | intergenic variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 25809488 | intron variant | C/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 3 | 53037781 | intron variant | G/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 88049223 | intron variant | C/T | snv | 7.8E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
0.925 | 0.120 | 7 | 112691741 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 3 | 151906841 | intron variant | G/A | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 11 | 100271031 | intron variant | T/C | snv | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 18 | 29955603 | intergenic variant | T/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 4 | 9959396 | intron variant | -/GA | delins | 1.1E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 11 | 66283241 | splice region variant | G/A;C | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.925 | 0.120 | 6 | 25830070 | intron variant | A/G | snv | 0.65 |
|
0.800 | 1.000 | 1 | 2010 | 2017 | ||||||||
|
0.925 | 0.120 | 4 | 48026080 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 6 | 26203682 | upstream gene variant | T/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 4 | 88118477 | intron variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 11 | 64668434 | intron variant | C/A;T | snv | 1.6E-04; 3.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 4 | 88051854 | intron variant | T/C | snv | 8.7E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2017 | ||||||||
|
0.882 | 0.200 | 4 | 88162514 | intron variant | T/C | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2010 | 2017 |