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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.070 | 0.857 | 7 | 2003 | 2019 | |||||||
|
0.851 | 0.120 | 19 | 45387615 | intron variant | T/C | snv | 0.27 |
|
0.070 | 1.000 | 7 | 2012 | 2019 | ||||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.070 | 1.000 | 7 | 2005 | 2019 | |||||||
|
0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 |
|
0.060 | 1.000 | 6 | 2005 | 2019 | |||||||
|
0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 |
|
0.060 | 1.000 | 6 | 2012 | 2019 | ||||||||
|
0.701 | 0.360 | 17 | 65558473 | missense variant | G/A | snv | 0.47 | 0.39 |
|
0.060 | 1.000 | 6 | 2006 | 2019 | |||||||
|
0.827 | 0.080 | 3 | 189638472 | intron variant | T/C | snv | 0.45 |
|
0.750 | 1.000 | 5 | 2011 | 2019 | ||||||||
|
0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 |
|
0.050 | 0.800 | 5 | 2015 | 2019 | |||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.040 | 1.000 | 4 | 2012 | 2019 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.040 | 1.000 | 4 | 2007 | 2019 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.040 | 1.000 | 4 | 2005 | 2019 | |||||||
|
0.724 | 0.240 | 5 | 1287079 | 3 prime UTR variant | G/A | snv | 0.63 |
|
0.740 | 1.000 | 4 | 2016 | 2019 | ||||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.040 | 1.000 | 4 | 2014 | 2019 | ||||||||
|
0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 |
|
0.040 | 1.000 | 4 | 2015 | 2019 | ||||||||
|
0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 |
|
0.030 | 1.000 | 3 | 2013 | 2019 | |||||||
|
0.827 | 0.120 | 7 | 76301442 | upstream gene variant | C/G | snv | 0.22 |
|
0.030 | 0.667 | 3 | 2015 | 2019 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.030 | 0.667 | 3 | 1993 | 2019 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.020 | 0.500 | 2 | 1993 | 2019 | ||||||||
|
0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.689 | 0.600 | 19 | 51693200 | non coding transcript exon variant | T/C | snv | 0.45 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.649 | 0.640 | 19 | 41353016 | missense variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.020 | 1.000 | 2 | 2006 | 2019 | ||||||||
|
0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 |
|
0.020 | 0.500 | 2 | 2015 | 2019 |