| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.740 | 1.000 | 9 | 1987 | 2017 | ||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 7 | 1987 | 2016 | |||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.710 | 1.000 | 6 | 1987 | 2016 | |||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
0.700 | 1.000 | 2 | 2011 | 2011 | |||||||||
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2009 | 2016 | |||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.080 | 1 | 36467833 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
0.800 | 1.000 | 10 | 2010 | 2019 | ||||||||
|
0.827 | 0.240 | 2 | 25234374 | missense variant | G/A;C;T | snv | 1.2E-04; 8.0E-06 |
|
0.710 | 1.000 | 8 | 2010 | 2016 | ||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.740 | 1.000 | 7 | 2009 | 2016 | |||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.760 | 0.923 | 7 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 197402108 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 2 | 197402109 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 2 | 197402636 | missense variant | T/A;C;G | snv | 2.0E-05; 1.2E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 2 | 197402635 | missense variant | C/A;G | snv | 2.4E-05; 4.0E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.732 | 0.280 | 2 | 197402110 | stop gained | T/A;C;G | snv | 9.0E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.200 | 2 | 197402637 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.200 | 2 | 25247685 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 2 | 25235779 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 3 | 128481270 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.882 | 0.080 | 3 | 128481901 | missense variant | G/A | snv |
|
0.720 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.925 | 0.080 | 4 | 54733154 | missense variant | GA/AT | mnv |
|
0.700 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv |
|
0.750 | 1.000 | 1 | 2006 | 2013 |