| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 9 | 5073742 | missense variant | G/C | snv |
|
0.810 | 1.000 | 1 | 2006 | 2019 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2016 | |||||||||
|
1.000 | 0.040 | 13 | 28027222 | missense variant | A/C;T | snv |
|
0.710 | 1.000 | 1 | 2012 | 2019 | |||||||||
|
0.925 | 0.040 | 13 | 28028244 | missense variant | T/G | snv |
|
0.710 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.710 | 1.000 | 1 | 1987 | 2016 | |||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
0.925 | 0.120 | 13 | 28018500 | missense variant | G/C | snv |
|
0.710 | 1.000 | 1 | 2003 | 2014 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 1987 | 2014 | ||||||||
|
0.763 | 0.280 | 15 | 90088703 | missense variant | G/A;C | snv |
|
0.710 | 1.000 | 1 | 2010 | 2016 | |||||||||
|
1.000 | 0.040 | 13 | 28018483 | missense variant | T/C | snv | 2.4E-05 | 1.4E-05 |
|
0.710 | 1.000 | 1 | 2005 | 2014 | |||||||
|
0.827 | 0.240 | 2 | 25234374 | missense variant | G/A;C;T | snv | 1.2E-04; 8.0E-06 |
|
0.710 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv |
|
0.710 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
1.000 | 0.040 | 15 | 90088650 | synonymous variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 16 | 85921636 | 3 prime UTR variant | C/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 1991 | 1991 | |||||||||
|
0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.080 | 9 | 5089726 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 16 | 50711322 | missense variant | C/T | snv | 1.5E-03 | 5.6E-04 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 1 | 76306643 | intron variant | T/C | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |