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 | 0.080 | 17 | 42378745 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 |
|
0.870 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 |
|
0.820 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.882 | 0.120 | 17 | 42355962 | intron variant | A/C | snv | 0.36 |
|
0.810 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 17 | 42355962 | intron variant | A/C | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 17 | 42347515 | intron variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
17 | 42343456 | intron variant | TTTTTTTTTTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT | delins | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 17 | 42390483 | upstream gene variant | G/A;T | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 17 | 42333221 | intron variant | G/A;T | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 17 | 42329423 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
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 | |||||||||
|
0.925 | 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 | |||||||||
|
0.925 | 0.120 | 17 | 42322474 | missense variant | C/T | snv |
|
0.700 | 1.000 | 5 | 2007 | 2016 | |||||||||
|
1.000 | 0.120 | 17 | 42329621 | missense variant | G/A | snv |
|
0.800 | 1.000 | 4 | 2007 | 2016 | |||||||||
|
0.925 | 0.120 | 17 | 42322404 | missense variant | A/G | snv |
|
0.700 | 1.000 | 4 | 2010 | 2018 | |||||||||
|
0.925 | 0.120 | 17 | 42322404 | missense variant | A/G | snv |
|
0.700 | 1.000 | 4 | 2010 | 2018 | |||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 3 | 2012 | 2017 |