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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.280 | 9 | 6248035 | intron variant | C/T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.200 | 1 | 67281732 | downstream gene variant | A/C | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.280 | 1 | 247424041 | missense variant | G/A;C | snv | 8.3E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.280 | 6 | 90287050 | intron variant | A/G | snv | 0.38 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.400 | 1 | 173197108 | intron variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.400 | 1 | 173209324 | upstream gene variant | C/T | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.280 | 1 | 211379722 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.320 | 16 | 10878023 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.360 | 1 | 113830881 | intron variant | A/C;G | snv | 0.56 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.200 | 5 | 96786754 | non coding transcript exon variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.280 | 6 | 111601517 | non coding transcript exon variant | A/G | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.200 | 6 | 52187730 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.200 | 8 | 31973417 | intron variant | T/C | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.200 | 22 | 31278338 | missense variant | C/G;T | snv | 6.4E-03; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.280 | 1 | 64837448 | intron variant | G/T | snv | 5.1E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.320 | 16 | 85984057 | intron variant | G/A | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.200 | 8 | 17642610 | splice region variant | C/G;T | snv | 8.0E-06; 0.11 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.320 | 7 | 150992855 | intron variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |