| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv |
|
0.820 | 1.000 | 4 | 2007 | 2018 | |||||||||
|
0.925 | 0.200 | 6 | 32816899 | missense variant | C/A;T | snv | 4.1E-06; 6.2E-02 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.851 | 0.240 | 6 | 32443746 | intron variant | T/A;C | snv | 0.51 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 33006624 | 3 prime UTR variant | G/C;T | snv |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||||
|
0.882 | 0.240 | 6 | 32369909 | missense variant | A/G;T | snv | 0.81 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32252908 | upstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||||
|
0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.827 | 0.280 | 6 | 32405921 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||||
|
0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv |
|
0.840 | 1.000 | 3 | 2008 | 2016 | |||||||||
|
0.882 | 0.160 | 6 | 31892560 | splice region variant | T/A;C | snv | 0.77 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32286877 | intron variant | A/G | snv |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||||
|
0.742 | 0.400 | 6 | 32460508 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||||
|
0.851 | 0.200 | 6 | 32082290 | missense variant | T/A;C;G | snv | 8.2E-06; 0.58; 4.1E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.776 | 0.320 | 2 | 203745673 | intergenic variant | C/A;T | snv |
|
0.820 | 0.833 | 2 | 2012 | 2019 | |||||||||
|
0.851 | 0.280 | 6 | 32193653 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2007 | 2011 | |||||||||
|
0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 |
|
0.850 | 0.889 | 2 | 2010 | 2019 | ||||||||
|
0.882 | 0.200 | 6 | 31470591 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||||
|
0.925 | 0.200 | 6 | 31587353 | non coding transcript exon variant | A/G;T | snv | 0.60 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 32061406 | missense variant | C/G;T | snv | 4.1E-06; 0.14 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.925 | 0.200 | 6 | 29974166 | upstream gene variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||||
|
0.790 | 0.200 | 9 | 34710263 | intron variant | G/A;C | snv |
|
0.820 | 1.000 | 2 | 2008 | 2017 | |||||||||
|
1.000 | 0.120 | 6 | 30551481 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||||
|
0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv |
|
0.810 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
0.827 | 0.280 | 6 | 32446496 | downstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2007 | 2016 |