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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.100 | 0.967 | 30 | 2007 | 2020 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.100 | 0.964 | 28 | 2007 | 2020 | ||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.060 | 0.833 | 6 | 2010 | 2018 | |||||||
|
0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 |
|
0.040 | 0.500 | 4 | 2009 | 2019 | ||||||||
|
0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 |
|
0.040 | 1.000 | 4 | 2007 | 2007 | |||||||
|
0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 2015 | 2019 | |||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.030 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.030 | 1.000 | 3 | 2010 | 2016 | ||||||||
|
0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 |
|
0.030 | 1.000 | 3 | 2013 | 2015 | ||||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 |
|
0.020 | 1.000 | 2 | 2008 | 2019 | |||||||
|
0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2019 | 2020 | |||||||||
|
0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2018 | |||||||||
|
0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 2011 | 2019 | |||||||||
|
0.882 | 0.200 | 11 | 68682735 | upstream gene variant | C/T | snv | 0.65 |
|
0.020 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
1.000 | 0.040 | 5 | 76968168 | intron variant | A/T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.160 | 15 | 51257402 | intron variant | G/A | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
5 | 76971301 | intron variant | G/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
22 | 15376497 | intergenic variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 31622570 | intron variant | T/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |