| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 78223510 | missense variant | G/A | snv | 0.93 | 0.96 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.851 | 0.120 | 2 | 146120964 | regulatory region variant | T/C | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 16 | 72963084 | intron variant | C/T | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.649 | 0.440 | 12 | 53968051 | non coding transcript exon variant | G/A | snv | 0.93 |
|
0.080 | 0.500 | 8 | 2016 | 2019 | ||||||||
|
0.925 | 0.120 | 8 | 41510767 | 3 prime UTR variant | T/G | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 20 | 32811837 | downstream gene variant | T/C | snv | 0.91 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 19 | 48954681 | upstream gene variant | A/G | snv | 0.89 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
4 | 184638333 | intron variant | G/C | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.776 | 0.200 | 11 | 122146306 | intron variant | C/A | snv | 0.88 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 8 | 16232964 | intron variant | C/T | snv | 0.87 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.120 | 8 | 23191779 | missense variant | C/T | snv | 0.88 | 0.86 |
|
0.030 | 1.000 | 3 | 2009 | 2014 | |||||||
|
0.851 | 0.240 | 10 | 92464408 | intron variant | C/T | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.790 | 0.120 | 14 | 104797271 | upstream gene variant | A/G | snv | 0.85 |
|
0.030 | 1.000 | 3 | 2017 | 2018 | ||||||||
|
0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 |
|
0.030 | 1.000 | 3 | 2014 | 2017 | |||||||
|
0.925 | 0.080 | 2 | 212081424 | intron variant | T/C | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 12 | 50775325 | intron variant | T/G | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.320 | 22 | 17084145 | upstream gene variant | G/A | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
6 | 128073744 | intron variant | T/C | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.400 | 3 | 186849088 | intron variant | G/A | snv | 0.81 |
|
0.030 | 0.667 | 3 | 2013 | 2015 | ||||||||
|
0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 |
|
0.020 | 1.000 | 2 | 2014 | 2019 |