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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.040 | 0.750 | 4 | 2009 | 2017 | |||||||
|
0.925 | 0.080 | 4 | 74382717 | synonymous variant | A/G | snv | 0.79 | 0.79 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.790 | 0.320 | 1 | 206770888 | 5 prime UTR variant | A/G;T | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 |
|
0.040 | 1.000 | 4 | 2010 | 2016 | |||||||
|
0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 1 | 67219760 | intron variant | G/A | snv | 0.43 | 0.47 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 6 | 137219233 | 5 prime UTR variant | A/G;T | snv | 0.43; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 2 | 230177560 | missense variant | A/G | snv | 0.42 | 0.40 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 |
|
0.040 | 0.750 | 4 | 2013 | 2019 | |||||||
|
0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.240 | 19 | 4236999 | missense variant | G/A | snv | 0.34 | 0.39 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.280 | 6 | 32828974 | missense variant | T/C | snv | 0.31 | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.752 | 0.320 | X | 12906707 | start lost | A/G | snv | 0.31 | 0.30 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.752 | 0.440 | 11 | 112150193 | synonymous variant | T/A;G | snv | 4.2E-06; 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.320 | 6 | 31572779 | missense variant | T/C | snv | 0.27 | 0.27 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.160 | 12 | 121167552 | missense variant | G/A;C | snv | 0.25; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |