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 | 0.120 | 2 | 233682175 | missense variant | T/C;G | snv | 4.0E-06; 1.4E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.120 | 2 | 74889400 | missense variant | G/A | snv | 6.0E-02 | 0.18 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.280 | 2 | 169196995 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.200 | 2 | 47429869 | stop gained | C/A;G;T | snv | 8.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 2 | 177231869 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 2 | 47791093 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 2 | 162147479 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2014 | |||||||
|
0.827 | 0.240 | 3 | 195788569 | missense variant | C/G;T | snv | 1.1E-05; 1.1E-05 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 3 | 138684714 | missense variant | C/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 3 | 9757072 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 3 | 9756551 | synonymous variant | A/G | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 3 | 9751114 | missense variant | G/C | snv | 5.2E-05 | 1.7E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 3 | 9754765 | synonymous variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 3 | 9751076 | missense variant | C/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 |