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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.900 | 0.902 | 4 | 1997 | 2018 | |||||||
|
0.851 | 0.080 | 11 | 17396930 | missense variant | C/A;T | snv | 0.64; 8.0E-06 |
|
0.790 | 0.900 | 1 | 1997 | 2018 | ||||||||
|
0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 |
|
0.900 | 0.906 | 4 | 1998 | 2019 | ||||||||
|
0.882 | 0.080 | 12 | 120979061 | missense variant | C/T | snv | 2.9E-02 | 2.2E-02 |
|
0.850 | 0.857 | 1 | 2004 | 2018 | |||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.900 | 0.953 | 28 | 2006 | 2020 | |||||||||
|
0.851 | 0.160 | 10 | 112994329 | intron variant | T/C | snv | 0.34 |
|
0.900 | 1.000 | 3 | 2006 | 2020 | ||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.780 | 1.000 | 1 | 2006 | 2018 | ||||||||
|
0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv |
|
0.870 | 0.900 | 1 | 2006 | 2020 | |||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
1.000 | 0.973 | 13 | 2007 | 2019 | ||||||||
|
0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 |
|
0.900 | 0.955 | 10 | 2007 | 2019 | ||||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
1.000 | 0.977 | 9 | 2007 | 2018 | ||||||||
|
0.776 | 0.360 | 10 | 92703125 | intergenic variant | C/T | snv | 0.36 |
|
0.900 | 0.914 | 8 | 2007 | 2020 | ||||||||
|
0.827 | 0.160 | 11 | 17387083 | missense variant | C/T | snv | 0.64 | 0.71 |
|
0.860 | 0.941 | 7 | 2007 | 2018 | |||||||
|
0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv |
|
0.900 | 0.966 | 6 | 2007 | 2019 | |||||||||
|
0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 |
|
0.900 | 0.963 | 5 | 2007 | 2017 | ||||||||
|
0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv |
|
0.900 | 0.958 | 5 | 2007 | 2019 | |||||||||
|
0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 |
|
0.900 | 0.964 | 4 | 2007 | 2019 | ||||||||
|
0.851 | 0.120 | 10 | 92705802 | downstream gene variant | C/T | snv | 0.42 |
|
0.900 | 0.941 | 3 | 2007 | 2019 | ||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.900 | 1.000 | 3 | 2007 | 2018 | ||||||||
|
0.925 | 0.120 | 1 | 119975336 | intron variant | G/T | snv | 0.17 |
|
0.820 | 1.000 | 2 | 2007 | 2017 | ||||||||
|
0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 |
|
0.900 | 1.000 | 2 | 2007 | 2019 | ||||||||
|
0.882 | 0.120 | 6 | 20717024 | intron variant | T/C | snv | 0.30 |
|
0.830 | 1.000 | 2 | 2007 | 2017 | ||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.900 | 0.961 | 2 | 2007 | 2019 | ||||||||
|
0.716 | 0.360 | 9 | 22029548 | 3 prime UTR variant | T/C | snv | 0.31 | 0.28 |
|
0.810 | 1.000 | 1 | 2007 | 2012 | |||||||
|
0.925 | 0.120 | 6 | 20703721 | intron variant | A/G | snv | 0.27 |
|
0.820 | 1.000 | 1 | 2007 | 2012 |