| 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 |
|
1.000 | 0.877 | 12 | 2005 | 2019 | |||||||
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.900 | 0.966 | 1 | 2007 | 2017 | ||||||||
|
0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 |
|
0.730 | 0.750 | 1 | 2012 | 2017 | |||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.850 | 0.889 | 3 | 2010 | 2019 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.850 | 0.818 | 5 | 2008 | 2019 | ||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.800 | 1.000 | 4 | 2007 | 2019 | ||||||||
|
0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 |
|
0.830 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 |
|
0.830 | 0.857 | 4 | 2012 | 2019 | |||||||
|
0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 |
|
0.830 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
0.695 | 0.360 | 6 | 90267049 | intron variant | G/A | snv | 0.11 |
|
0.810 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.716 | 0.240 | 5 | 56148856 | intron variant | G/A | snv | 0.30 |
|
0.800 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv |
|
0.730 | 1.000 | 1 | 2010 | 2012 | |||||||||
|
0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv |
|
0.840 | 1.000 | 3 | 2008 | 2016 | |||||||||
|
0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 |
|
0.800 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 |
|
0.900 | 0.938 | 6 | 2007 | 2019 | ||||||||
|
0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 |
|
0.820 | 1.000 | 4 | 2014 | 2019 | ||||||||
|
0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 |
|
0.820 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv |
|
0.810 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
0.752 | 0.240 | 11 | 95578258 | intron variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.752 | 0.360 | 6 | 32609603 | intergenic variant | A/G | snv | 0.19 |
|
0.810 | 1.000 | 2 | 2007 | 2018 | ||||||||
|
0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 |
|
0.880 | 1.000 | 1 | 2007 | 2016 | ||||||||
|
0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv |
|
0.820 | 1.000 | 2 | 2007 | 2018 |