| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | |||||||
|
0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.020 | 0.500 | 2 | 2010 | 2017 | |||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2007 | 2018 | |||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
0.020 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.020 | 1.000 | 2 | 1997 | 1998 | |||||||
|
0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2017 | |||||||||
|
0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 |
|
0.020 | 0.500 | 2 | 2008 | 2011 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.020 | 0.500 | 2 | 2008 | 2012 | |||||||
|
0.807 | 0.200 | 14 | 64301584 | splice region variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.882 | 0.120 | 11 | 2150371 | intron variant | T/C | snv | 0.19 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.649 | 0.440 | 12 | 53968051 | non coding transcript exon variant | G/A | snv | 0.93 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.882 | 0.120 | 18 | 676008 | intron variant | G/C | snv | 0.63 |
|
0.020 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
0.776 | 0.160 | 7 | 74059952 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.708 | 0.240 | 2 | 48962782 | missense variant | C/T | snv | 0.57 | 0.57 |
|
0.020 | 1.000 | 2 | 2009 | 2014 | |||||||
|
0.925 | 0.120 | 9 | 133279871 | upstream gene variant | T/C | snv | 0.49 |
|
0.020 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
0.807 | 0.160 | 17 | 43104122 | missense variant | C/A;G | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2003 | 2012 | ||||||||
|
0.827 | 0.160 | 17 | 43115759 | missense variant | G/A | snv |
|
0.020 | 0.500 | 2 | 2007 | 2010 | |||||||||
|
0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 |
|
0.020 | 1.000 | 2 | 2007 | 2013 | |||||||
|
0.763 | 0.200 | 17 | 43094776 | missense variant | C/T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2005 | 2013 |