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 | 17 | 42317209 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42317209 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 17 | 42329642 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42329423 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 42325038 | inframe deletion | CAC/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42322407 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42333736 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42333736 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 17 | 42333719 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 17 | 42329448 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42323120 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42323112 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 17 | 42322413 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42317192 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.716 | 0.320 | 17 | 42390192 | upstream gene variant | G/C | snv | 0.67 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 |
|
0.020 | 0.500 | 2 | 2013 | 2015 | ||||||||
|
0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 |
|
0.030 | 0.667 | 3 | 2017 | 2019 | ||||||||
|
0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 |
|
0.040 | 0.750 | 4 | 2013 | 2019 | ||||||||
|
17 | 42317182 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 11 | 2007 | 2018 | |||||||||||
|
0.925 | 0.120 | 17 | 42322474 | missense variant | C/T | snv |
|
0.700 | 1.000 | 9 | 2007 | 2018 | |||||||||
|
0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 |
|
0.870 | 1.000 | 8 | 2008 | 2016 | ||||||||
|
0.925 | 0.120 | 17 | 42322413 | missense variant | T/C | snv |
|
0.800 | 1.000 | 7 | 2007 | 2016 | |||||||||
|
0.925 | 0.120 | 17 | 42329643 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 2007 | 2014 | |||||||||
|
0.925 | 0.120 | 17 | 42329643 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 2007 | 2014 | |||||||||
|
0.925 | 0.120 | 17 | 42322474 | missense variant | C/T | snv |
|
0.700 | 1.000 | 5 | 2007 | 2016 |