| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 3 | 12622336 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.080 | 8 | 42277660 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.120 | 20 | 37403359 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 12 | 25245328 | missense variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 3 | 75330074 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.724 | 0.480 | 10 | 67883321 | upstream gene variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.080 | 9 | 21974571 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.160 | 8 | 127092098 | non coding transcript exon variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.160 | 5 | 112837749 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.120 | 7 | 107901762 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 22 | 21769233 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.160 | 3 | 37050495 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 22 | 30617374 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.851 | 0.120 | 7 | 5987230 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 7 | 45921122 | missense variant | T/C | snv | 1.0E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 17 | 78214076 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 |