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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.360 | 16 | 8811088 | stop gained | C/A;T | snv | 4.4E-05; 5.4E-06 |
|
0.820 | 1.000 | 6 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | 16 | 8811146 | missense variant | G/A | snv |
|
0.820 | 1.000 | 3 | 1997 | 2007 | |||||||||
|
1.000 | 0.080 | 16 | 8847731 | missense variant | A/G;T | snv | 2.4E-05 |
|
0.810 | 1.000 | 0 | 1997 | 2007 | ||||||||
|
0.827 | 0.280 | 16 | 8811099 | stop gained | G/A;T | snv | 1.1E-04; 5.2E-06 |
|
0.800 | 1.000 | 10 | 1997 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 8847794 | missense variant | C/G;T | snv | 1.3E-04; 4.4E-05 |
|
0.800 | 1.000 | 9 | 1997 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 8804781 | missense variant | G/T | snv | 7.0E-06 |
|
0.800 | 1.000 | 8 | 1997 | 2011 | ||||||||
|
0.925 | 0.080 | 16 | 8847806 | missense variant | G/C | snv | 6.0E-05 | 2.7E-04 |
|
0.800 | 1.000 | 8 | 1997 | 2015 | |||||||
|
1.000 | 0.080 | 16 | 8811648 | stop gained | T/A;C;G | snv | 1.6E-05; 4.0E-06 |
|
0.800 | 1.000 | 7 | 1997 | 2014 | ||||||||
|
0.851 | 0.200 | 16 | 8806398 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 |
|
0.800 | 1.000 | 6 | 1997 | 2015 | ||||||||
|
0.925 | 0.080 | 16 | 8847775 | missense variant | G/A;C | snv | 6.8E-05; 4.0E-06 |
|
0.800 | 1.000 | 6 | 1997 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 8811161 | missense variant | T/C | snv | 1.6E-04 | 6.3E-05 |
|
0.800 | 1.000 | 5 | 1997 | 2017 | |||||||
|
0.925 | 0.080 | 16 | 8801827 | missense variant | TA/GC | mnv |
|
0.800 | 1.000 | 5 | 1997 | 2015 | |||||||||
|
0.925 | 0.080 | 16 | 8811173 | missense variant | G/A | snv | 1.6E-04 | 1.3E-04 |
|
0.800 | 1.000 | 4 | 1997 | 2011 | |||||||
|
1.000 | 0.080 | 16 | 8804793 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 4 | 1997 | 2012 | |||||||||
|
1.000 | 0.080 | 16 | 8813030 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.800 | 1.000 | 4 | 1997 | 2008 | |||||||
|
1.000 | 0.080 | 16 | 8811116 | missense variant | G/A;T | snv | 1.0E-05; 5.0E-06 |
|
0.800 | 1.000 | 3 | 1997 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 8801863 | missense variant | T/C | snv |
|
0.800 | 1.000 | 3 | 1997 | 2015 | |||||||||
|
1.000 | 0.080 | 16 | 8806383 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.800 | 1.000 | 3 | 2005 | 2015 | |||||||
|
1.000 | 0.080 | 16 | 8811152 | missense variant | C/T | snv | 2.1E-05 | 3.5E-05 |
|
0.800 | 1.000 | 3 | 1997 | 2015 | |||||||
|
1.000 | 0.080 | 16 | 8811674 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 |
|
0.800 | 1.000 | 2 | 1997 | 2011 | |||||||
|
1.000 | 0.080 | 16 | 8811080 | missense variant | G/C | snv |
|
0.800 | 1.000 | 0 | 1997 | 2007 | |||||||||
|
1.000 | 0.080 | 16 | 8847753 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 0 | 1997 | 2007 | |||||||||
|
1.000 | 0.080 | 16 | 8797908 | missense variant | G/A;T | snv | 4.1E-06 |
|
0.800 | 1.000 | 0 | 1997 | 2007 | ||||||||
|
1.000 | 0.080 | 16 | 8811126 | missense variant | T/C | snv | 9.9E-06 |
|
0.800 | 1.000 | 0 | 1997 | 2007 | ||||||||
|
1.000 | 0.080 | 16 | 8847737 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 0 | 1997 | 2007 |