| 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 | 17 | 49219935 | missense variant | T/C | snv | 0.99 | 0.99 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||
|
1.000 | 0.080 | 1 | 207609571 | missense variant | A/T | snv | 0.99 | 0.99 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.120 | 9 | 137018032 | missense variant | A/C;G | snv | 0.97 | 0.96 |
|
0.030 | 1.000 | 3 | 2005 | 2013 | |||||||
|
1.000 | 0.080 | 7 | 80661053 | intron variant | A/G | snv | 0.97 | 0.92 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | 19 | 1056493 | missense variant | G/C;T | snv | 0.84; 4.1E-06 |
|
0.850 | 0.833 | 5 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 15 | 82852284 | non coding transcript exon variant | C/T | snv | 0.79 | 0.83 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.120 | 10 | 103458495 | missense variant | A/G | snv | 0.79 | 0.80 |
|
0.100 | 0.941 | 17 | 2008 | 2016 | |||||||
|
0.925 | 0.080 | 11 | 86014894 | synonymous variant | C/T | snv | 0.78 | 0.82 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.742 | 0.200 | 22 | 43162920 | missense variant | A/G | snv | 0.76 | 0.75 |
|
0.020 | 0.500 | 2 | 2016 | 2020 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.080 | 0.875 | 8 | 2000 | 2015 | ||||||||
|
0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 |
|
0.020 | 1.000 | 2 | 2006 | 2013 | |||||||
|
0.882 | 0.160 | 9 | 35062975 | splice region variant | C/T | snv | 0.75 | 0.75 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 7 | 100406823 | intron variant | C/A;T | snv | 4.0E-06; 0.74 |
|
0.830 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 2838014 | intron variant | G/A | snv | 0.72 | 0.70 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 19 | 44108078 | missense variant | A/G | snv | 0.71 | 0.70 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.240 | 9 | 104800523 | missense variant | T/C | snv | 0.71 | 0.60 |
|
0.050 | 0.600 | 5 | 2003 | 2013 | |||||||
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 6453644 | missense variant | A/G;T | snv | 0.68; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.030 | 1.000 | 3 | 2008 | 2016 | |||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.030 | 1.000 | 3 | 2008 | 2016 | |||||||
|
0.827 | 0.120 | 19 | 38894892 | intron variant | T/C | snv | 0.68 | 0.67 |
|
0.060 | 0.833 | 6 | 2013 | 2019 |