| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv |
|
0.740 | 1.000 | 4 | 2004 | 2018 | |||||||||
|
0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 |
|
0.040 | 1.000 | 4 | 2015 | 2019 | ||||||||
|
0.827 | 0.120 | 2 | 29222347 | missense variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2014 | 2016 | |||||||||
|
0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv |
|
0.030 | 1.000 | 3 | 2015 | 2019 | |||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.030 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2008 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 33172302 | missense variant | A/C | snv |
|
0.030 | 1.000 | 3 | 2011 | 2018 | |||||||||
|
0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv |
|
0.720 | 1.000 | 2 | 1995 | 2016 | |||||||||
|
0.827 | 0.080 | 2 | 29220765 | missense variant | G/T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2008 | 2016 | |||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.720 | 1.000 | 2 | 2002 | 2019 | ||||||||
|
1.000 | 0.080 | 9 | 113241753 | intron variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.720 | 1.000 | 2 | 2002 | 2018 | ||||||||
|
0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 |
|
0.020 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.649 | 0.640 | 19 | 41353016 | missense variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
0.742 | 0.240 | 6 | 33208047 | upstream gene variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2012 | 2017 | |||||||||
|
0.827 | 0.120 | 12 | 89351700 | missense variant | C/A;T | snv | 0.52 |
|
0.020 | 0.500 | 2 | 2017 | 2018 | ||||||||
|
0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 |
|
0.020 | 1.000 | 2 | 2014 | 2016 |