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 |
|
0.030 | 0.667 | 3 | 2009 | 2012 | |||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.030 | 1.000 | 3 | 2009 | 2014 | ||||||||
|
0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.360 | 17 | 42313892 | 3 prime UTR variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | 11 | 614318 | missense variant | T/C | snv | 0.25 | 0.33 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 11 | 613208 | missense variant | T/C | snv | 0.25 | 0.33 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.763 | 0.320 | 12 | 68251271 | intron variant | C/G | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 3 | 119435715 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 3 | 24127628 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.320 | 16 | 85984057 | intron variant | G/A | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 17 | 42360972 | intron variant | C/G | snv | 6.1E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 2 | 1492028 | intron variant | A/G | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 8 | 132888141 | synonymous variant | T/C | snv | 0.58 | 0.60 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 2 | 1412867 | intron variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.160 | 8 | 132971813 | missense variant | C/T | snv | 0.31 | 0.37 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.040 | 12 | 68254842 | upstream gene variant | A/G | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 4 | 76007275 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |