| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 17 | 39708413 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.010 | 1.000 | 1 | 2003 | 2003 |