| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.040 | 0.750 | 4 | 2017 | 2018 | |||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.030 | 1.000 | 3 | 2007 | 2017 | |||||||||
|
0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv |
|
0.030 | 1.000 | 3 | 2012 | 2015 | |||||||||
|
0.827 | 0.120 | 11 | 69424973 | upstream gene variant | G/A;C | snv |
|
0.830 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | 0.500 | 2 | 2007 | 2011 | ||||||||
|
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 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.020 | 1.000 | 2 | 2015 | 2015 | |||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2007 | 2011 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 0.500 | 2 | 2007 | 2011 | |||||||||
|
0.925 | 0.120 | 17 | 17215072 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||||
|
0.882 | 0.120 | 17 | 17228023 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.240 | 3 | 10146566 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.882 | 0.240 | 1 | 17054012 | missense variant | G/A;C | snv | 4.1E-06; 3.1E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 17 | 17228135 | frameshift variant | C/- | del |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.280 | 1 | 17054017 | start lost | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 2 | 46306237 | intron variant | T/A;C;G | snv |
|
0.810 | 1.000 | 1 | 2011 | 2019 | |||||||||
|
0.925 | 0.120 | 2 | 46332637 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 9 | 133734172 | start lost | A/G | snv | 5.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.160 | 8 | 109578004 | missense variant | A/G | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 |