| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 |
|
0.020 | 1.000 | 2 | 2003 | 2009 | |||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.020 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
0.020 | 1.000 | 2 | 2007 | 2014 | |||||||
|
0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 |
|
0.020 | 0.500 | 2 | 2010 | 2017 | |||||||
|
0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 |
|
0.020 | 1.000 | 2 | 2006 | 2006 | |||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.020 | 0.500 | 2 | 2011 | 2015 | |||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.807 | 0.240 | 8 | 30183156 | missense variant | A/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2006 | ||||||||
|
0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 |
|
0.020 | 0.500 | 2 | 2002 | 2003 | ||||||||
|
0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 22907986 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.080 | 7 | 6005996 | missense variant | C/A;G;T | snv | 7.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 4 | 110618669 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
11 | 6319476 | missense variant | A/G | snv | 4.2E-06; 0.55 | 0.51 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |