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 | 0.080 | 16 | 13932150 | splice region variant | G/A;C;T | snv | 0.97; 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.020 | 0.500 | 2 | 2012 | 2016 | ||||||||
|
0.925 | 0.080 | 6 | 28260564 | missense variant | A/G | snv | 0.87 | 0.83 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 19 | 57231104 | 5 prime UTR variant | G/A;C;T | snv | 0.87; 3.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 |
|
0.030 | 1.000 | 3 | 2006 | 2019 | |||||||
|
0.925 | 0.080 | 5 | 52861540 | missense variant | T/C;G | snv | 0.79; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 6 | 35424010 | missense variant | C/G;T | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 1 | 11228701 | missense variant | G/A;T | snv | 0.75; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.020 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.100 | 0.750 | 16 | 2010 | 2017 | |||||||
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.750 | 16 | 2002 | 2018 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.909 | 11 | 2009 | 2018 | ||||||||
|
0.925 | 0.080 | 17 | 50863061 | synonymous variant | T/C | snv | 0.66 | 0.69 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 17 | 8205021 | synonymous variant | G/A | snv | 0.66 | 0.64 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.689 | 0.360 | 17 | 744946 | missense variant | G/A;C | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.280 | 17 | 39657827 | missense variant | G/A | snv | 0.62 | 0.52 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 11 | 47238117 | intron variant | T/C | snv | 0.60 | 0.58 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 |
|
0.040 | 0.750 | 4 | 2014 | 2018 | ||||||||
|
0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 |
|
0.100 | 1.000 | 16 | 2011 | 2018 | ||||||||
|
0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.708 | 0.440 | 20 | 32786453 | intron variant | C/T | snv | 0.56 | 0.53 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |