| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 11416089 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2016 | |||||||||||
|
4 | 80236549 | regulatory region variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
1.000 | 0.040 | 10 | 102856906 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
7 | 27119517 | splice region variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
12 | 50144032 | missense variant | A/G;T | snv | 0.69 | 0.71 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 1 | 10736809 | intron variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
4 | 110409934 | intron variant | T/C | snv | 0.92 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 33204354 | intron variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 164155317 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
8 | 55901862 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
7 | 27288591 | intergenic variant | A/G | snv | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 112646431 | intron variant | G/A | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 112501706 | intron variant | G/T | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 4 | 80259918 | intergenic variant | A/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
6 | 43312975 | intron variant | C/T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 94538497 | intergenic variant | C/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 115760536 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 0.120 | 4 | 80248758 | intergenic variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
12 | 89675499 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 89680664 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 0.040 | 2 | 43650017 | intron variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
10 | 103179458 | intron variant | T/C | snv | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 58439730 | missense variant | C/G;T | snv | 0.21 | 0.22 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
11 | 61510226 | 3 prime UTR variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |