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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.800 | 0.981 | 452 | 2002 | 2020 | |||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.800 | 1.000 | 34 | 2002 | 2020 | |||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.100 | 0.941 | 17 | 2011 | 2019 | |||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.800 | 1.000 | 16 | 1989 | 2019 | |||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.800 | 1.000 | 16 | 1989 | 2019 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.800 | 1.000 | 15 | 2005 | 2019 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.900 | 10 | 2006 | 2017 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.900 | 10 | 2006 | 2017 | |||||||||
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
0.780 | 1.000 | 8 | 1989 | 2016 | |||||||||
|
0.807 | 0.120 | 7 | 6387261 | missense variant | C/A;T | snv |
|
0.070 | 1.000 | 7 | 2013 | 2019 | |||||||||
|
0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv |
|
0.760 | 1.000 | 6 | 1995 | 2016 | |||||||||
|
0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 |
|
0.060 | 1.000 | 6 | 2010 | 2017 | ||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.860 | 1.000 | 6 | 2010 | 2015 | ||||||||
|
0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv |
|
0.050 | 1.000 | 5 | 1999 | 2015 | |||||||||
|
0.827 | 0.160 | 19 | 3118944 | missense variant | A/C;T | snv |
|
0.750 | 1.000 | 5 | 1989 | 2018 | |||||||||
|
0.827 | 0.200 | 12 | 57751647 | missense variant | C/A;T | snv |
|
0.740 | 0.600 | 4 | 2003 | 2014 | |||||||||
|
0.790 | 0.160 | 9 | 77794572 | missense variant | T/A;C;G | snv |
|
0.740 | 1.000 | 4 | 1989 | 2018 | |||||||||
|
0.851 | 0.080 | 9 | 77794572 | missense variant | TG/AA | mnv |
|
0.030 | 1.000 | 3 | 2012 | 2018 | |||||||||
|
0.851 | 0.200 | 9 | 21974686 | missense variant | G/A;T | snv |
|
0.030 | 0.667 | 3 | 2006 | 2008 | |||||||||
|
0.925 | 0.040 | 19 | 7909761 | missense variant | A/G | snv |
|
0.020 | 1.000 | 2 | 2005 | 2015 | |||||||||
|
0.925 | 0.040 | 15 | 66436816 | missense variant | G/C | snv |
|
0.720 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
0.925 | 0.040 | 15 | 66436815 | missense variant | T/A | snv |
|
0.020 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 3 | 53284850 | 3 prime UTR variant | C/A | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv |
|
0.720 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv |
|
0.020 | 1.000 | 2 | 2016 | 2018 |