| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.160 | 1 | 241881973 | missense variant | C/A;G;T | snv | 0.96 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
17 | 78223510 | missense variant | G/A | snv | 0.93 | 0.96 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
10 | 103900068 | missense variant | T/A;C | snv | 4.0E-06; 0.91 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.050 | 1.000 | 5 | 2008 | 2015 | ||||||||
|
0.882 | 0.040 | 9 | 21968200 | 3 prime UTR variant | C/A;G | snv | 4.0E-06; 0.88 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.120 | 8 | 23191779 | missense variant | C/T | snv | 0.88 | 0.86 |
|
0.030 | 1.000 | 3 | 2009 | 2014 | |||||||
|
0.807 | 0.160 | 7 | 116525306 | missense variant | A/C;G | snv | 0.86 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 |
|
0.030 | 1.000 | 3 | 2014 | 2017 | |||||||
|
0.851 | 0.160 | 17 | 746695 | missense variant | G/C;T | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||
|
0.742 | 0.320 | 12 | 80935757 | non coding transcript exon variant | A/C;T | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.040 | 1.000 | 4 | 2013 | 2016 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.040 | 0.750 | 4 | 2014 | 2019 | ||||||||
|
0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.080 | 15 | 69269179 | missense variant | G/A | snv | 0.75 | 0.69 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 |
|
0.020 | 1.000 | 2 | 2010 | 2015 | |||||||
|
0.790 | 0.160 | 5 | 80873118 | missense variant | G/A | snv | 0.73 | 0.70 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||
|
0.807 | 0.120 | 9 | 84002350 | missense variant | A/G;T | snv | 0.73 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.160 | 6 | 116809541 | missense variant | G/A | snv | 0.72 | 0.74 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.100 | 0.941 | 34 | 2010 | 2018 | |||||||
|
0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 3 | 8913705 | missense variant | C/T | snv | 0.68 | 0.70 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |