| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 |
|
0.840 | 1.000 | 2 | 2007 | 2015 | ||||||||
|
0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv |
|
0.830 | 1.000 | 1 | 2009 | 2015 | |||||||||
|
0.827 | 0.440 | 3 | 159947262 | intron variant | A/G | snv | 8.2E-02 |
|
0.820 | 1.000 | 2 | 2008 | 2020 | ||||||||
|
0.790 | 0.320 | 6 | 159044945 | 5 prime UTR variant | T/C | snv | 0.49 |
|
0.810 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.882 | 0.200 | 1 | 192567683 | intron variant | C/A | snv | 0.79 |
|
0.810 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 |
|
0.810 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
0.882 | 0.200 | 2 | 102355405 | intron variant | G/T | snv | 0.77 |
|
0.810 | 1.000 | 1 | 2008 | 2009 | ||||||||
|
0.790 | 0.320 | 6 | 137651931 | intergenic variant | A/G | snv | 0.16 |
|
0.810 | 1.000 | 1 | 2009 | 2010 | ||||||||
|
1.000 | 0.080 | 13 | 50261579 | intron variant | C/T | snv | 0.15 |
|
0.810 | 1.000 | 1 | 2010 | 2014 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.810 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
1.000 | 0.080 | 3 | 46310893 | non coding transcript exon variant | T/C | snv | 0.74 |
|
0.810 | 1.000 | 1 | 2008 | 2015 | ||||||||
|
0.827 | 0.280 | 6 | 127957653 | intergenic variant | A/G;T | snv |
|
0.810 | 1.000 | 1 | 2010 | 2014 | |||||||||
|
0.882 | 0.200 | 10 | 79298270 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2011 | |||||||||
|
0.827 | 0.200 | 2 | 60959694 | intron variant | A/G | snv | 0.50 |
|
0.800 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.827 | 0.200 | 4 | 122194347 | intron variant | A/G | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2007 | 2014 | ||||||||
|
0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 2 | 2008 | 2010 | |||||||||
|
0.925 | 0.200 | 6 | 137684378 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.776 | 0.320 | 2 | 203745673 | intergenic variant | C/A;T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.800 | 1.000 | 2 | 2007 | 2010 | ||||||||
|
0.851 | 0.240 | 22 | 21625000 | downstream gene variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 61326191 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2010 | 2016 | |||||||||
|
1.000 | 0.080 | 2 | 181143073 | intron variant | T/C | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 383546 | regulatory region variant | C/T | snv | 5.4E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.280 | 6 | 408079 | 3 prime UTR variant | C/T | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2011 | 2011 |