| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.900 | 0.980 | 101 | 2005 | 2019 | |||||||
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.900 | 1.000 | 11 | 2008 | 2017 | ||||||||
|
0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 |
|
0.810 | 0.750 | 4 | 2011 | 2019 | ||||||||
|
0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 |
|
0.810 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.810 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
0.925 | 0.200 | 1 | 167442147 | intron variant | A/G | snv | 0.29 |
|
0.810 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.776 | 0.160 | 4 | 122633552 | intron variant | C/T | snv | 0.16 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
5 | 56264200 | upstream gene variant | T/G | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.120 | 11 | 118741072 | intron variant | G/A;T | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
7 | 37397251 | intron variant | A/G | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 159035859 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 65381775 | intron variant | C/T | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.120 | 9 | 120878222 | intron variant | T/C | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.240 | 22 | 21628603 | missense variant | C/T | snv | 0.27 | 0.18 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.200 | 2 | 30222160 | intergenic variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
8 | 128303768 | intergenic variant | G/A | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 |
|
0.750 | 0.833 | 6 | 2013 | 2019 | |||||||
|
0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 |
|
0.730 | 1.000 | 4 | 2011 | 2017 | ||||||||
|
0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 |
|
0.720 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
0.827 | 0.200 | 4 | 122194347 | intron variant | A/G | snv | 0.11 |
|
0.710 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
0.790 | 0.320 | 12 | 57574932 | intron variant | C/G | snv | 0.42 |
|
0.710 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.882 | 0.080 | 1 | 167451188 | intron variant | T/G | snv | 0.30 |
|
0.710 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.882 | 0.200 | 1 | 192567683 | intron variant | C/A | snv | 0.79 |
|
0.710 | 1.000 | 2 | 2011 | 2017 |