| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 11 | 69424973 | upstream gene variant | G/A;C | snv |
|
0.830 | 1.000 | 7 | 2011 | 2019 | |||||||||
|
0.882 | 0.120 | 12 | 26300350 | intron variant | A/G | snv | 0.27 |
|
0.840 | 0.833 | 6 | 2012 | 2019 | ||||||||
|
0.925 | 0.120 | 2 | 46310465 | intron variant | A/G | snv | 0.52 |
|
0.830 | 1.000 | 5 | 2011 | 2019 | ||||||||
|
0.827 | 0.120 | 12 | 26336611 | 3 prime UTR variant | G/T | snv | 0.69 |
|
0.820 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
0.925 | 0.120 | 2 | 46306237 | intron variant | T/A;C;G | snv |
|
0.810 | 1.000 | 4 | 2011 | 2019 | |||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.040 | 0.750 | 4 | 2017 | 2018 | |||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.030 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.030 | 1.000 | 3 | 2007 | 2017 | |||||||||
|
0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 |
|
0.030 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv |
|
0.030 | 1.000 | 3 | 2012 | 2015 | |||||||||
|
0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.030 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.925 | 0.120 | 12 | 124836304 | intron variant | C/T | snv | 0.38 |
|
0.810 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
0.683 | 0.480 | 15 | 81296654 | intron variant | T/C | snv | 0.24 |
|
0.030 | 0.667 | 3 | 2015 | 2019 | ||||||||
|
0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 1999 | 2003 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2007 | 2011 | |||||||||
|
1.000 | 0.120 | 2 | 144450626 | intron variant | T/C | snv | 6.1E-02 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.925 | 0.240 | 3 | 10149796 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2002 | 2014 | |||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.020 | 1.000 | 2 | 2015 | 2015 | |||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.020 | 0.500 | 2 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 2 | 46308785 | intron variant | C/A | snv | 0.61 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.925 | 0.120 | 14 | 72812712 | intron variant | T/C | snv | 0.23 |
|
0.710 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
0.851 | 0.320 | 3 | 10142113 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2002 | 2014 | |||||||||
|
0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2012 | 2015 |