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 | 10 | 96354046 | intron variant | A/T | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 14 | 105124634 | downstream gene variant | A/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 11 | 102208982 | intron variant | G/A;T | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 8 | 98443083 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 13 | 80105167 | intergenic variant | T/A;G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 6 | 162250424 | intron variant | A/T | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.240 | 12 | 112485589 | intron variant | G/A | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 9 | 89595154 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 14 | 94913162 | intergenic variant | T/C | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 8 | 94389037 | intron variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 17 | 9044391 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 8 | 38411996 | 3 prime UTR variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 15 | 32731180 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.742 | 0.320 | 12 | 57244322 | missense variant | C/G | snv | 9.1E-05 | 3.8E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 7 | 119626216 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.200 | 2 | 45006255 | missense variant | C/T | snv | 1.1E-04 | 4.0E-04 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.827 | 0.240 | 14 | 36519251 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.925 | 0.120 | 8 | 99517598 | intron variant | G/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 7 | 119500548 | intron variant | T/A | snv | 2.4E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 2 | 147749295 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 17 | 62999067 | regulatory region variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.716 | 0.440 | 16 | 68737131 | upstream gene variant | C/A | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 3 | 99929006 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |