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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
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 | ||||||||
|
0.925 | 0.120 | 17 | 42329448 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
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 | 42378745 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 17 | 42347515 | intron variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
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 | ||||||||
|
1.000 | 17 | 42333690 | missense variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 17 | 42329430 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 17 | 42322395 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 0.120 | 17 | 42339328 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 17 | 42339328 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 17 | 42339328 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 17 | 42331524 | missense variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 17 | 42329431 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 17 | 42317219 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.882 | 0.120 | 17 | 42355962 | intron variant | A/C | snv | 0.36 |
|
0.810 | 1.000 | 1 | 2013 | 2013 |