| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 |
|
0.700 | 1.000 | 12 | 2005 | 2016 | |||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 8 | 2005 | 2011 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.750 | 1.000 | 7 | 2002 | 2015 | ||||||||
|
0.882 | 0.280 | 17 | 61780325 | stop gained | G/A;T | snv | 1.6E-05; 2.0E-05 |
|
0.700 | 1.000 | 5 | 2014 | 2016 | ||||||||
|
0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 4 | 2002 | 2012 | |||||||||
|
0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 4 | 2006 | 2010 | |||||||||
|
0.882 | 0.280 | 17 | 61799125 | stop gained | G/A;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 4 | 2016 | 2017 | ||||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 3 | 2001 | 2010 | ||||||||
|
0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 3 | 2001 | 2010 | |||||||||
|
0.882 | 0.280 | 17 | 61685976 | stop gained | A/C | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2015 | 2016 | |||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.710 | 1.000 | 2 | 2005 | 2016 | ||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2008 | 2011 | |||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2005 | 2012 | |||||||||
|
0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 2 | 2005 | 2012 | |||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.710 | 1.000 | 2 | 2005 | 2016 | ||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2005 | 2012 | |||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2008 | 2011 | |||||||||
|
0.882 | 0.280 | 17 | 61793698 | stop gained | C/A;G | snv | 4.0E-06 | 2.8E-05 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | |||||||
|
0.882 | 0.280 | 17 | 61859868 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.925 | 0.160 | 7 | 140781612 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.280 | 17 | 61743015 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2004 | 2004 |