| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 20 | 53830764 | upstream gene variant | A/G | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 20 | 32832951 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.200 | 19 | 7166098 | intron variant | A/G;T | snv |
|
0.830 | 0.500 | 1 | 2011 | 2020 | |||||||||
|
1.000 | 0.120 | 17 | 39826630 | intron variant | G/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 17 | 39569151 | downstream gene variant | A/G | snv | 0.97 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 16 | 52313907 | intergenic variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.120 | 16 | 52341865 | intergenic variant | A/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 12 | 23857104 | intron variant | C/A | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 12 | 75541377 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.120 | 12 | 28568792 | intron variant | G/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 12 | 75547262 | intergenic variant | T/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.200 | 12 | 55970537 | intron variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 12 | 56083910 | splice region variant | A/T | snv | 0.63 | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.120 | 12 | 65830681 | intron variant | A/C | snv | 2.1E-02 |
|
0.810 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 12 | 55996852 | upstream gene variant | A/G | snv | 0.24 |
|
0.810 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.925 | 0.120 | 12 | 56073803 | upstream gene variant | C/T | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 12 | 56086799 | intron variant | G/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 11 | 30204981 | intron variant | G/A | snv | 0.11 |
|
0.710 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 11 | 102172509 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||
|
1.000 | 0.120 | 11 | 114078510 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 30204809 | intron variant | T/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 102199908 | intron variant | A/G | snv | 8.2E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.120 | 9 | 123762933 | intron variant | A/G | snv | 0.44 |
|
0.900 | 0.833 | 2 | 2011 | 2019 |