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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.440 | 3 | 159947262 | intron variant | A/G | snv | 8.2E-02 |
|
0.820 | 1.000 | 2 | 2008 | 2020 | ||||||||
|
0.925 | 0.080 | 7 | 31159653 | intergenic variant | G/A | snv | 0.50 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
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 | |||||||||
|
0.882 | 0.200 | 1 | 192567683 | intron variant | C/A | snv | 0.79 |
|
0.810 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.851 | 0.240 | 22 | 21625000 | downstream gene variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 61326191 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2010 | 2016 | |||||||||
|
0.925 | 0.200 | 2 | 60877850 | intron variant | A/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.320 | 12 | 112172910 | intron variant | G/A;C | snv | 0.30; 4.1E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 2 | 100142823 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 11 | 118809939 | regulatory region variant | C/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 10 | 79306017 | intron variant | G/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 191105604 | intron variant | C/G | snv | 8.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 102476054 | intron variant | C/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 2 | 181246479 | intron variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.240 | 1 | 183563445 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 3.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 4 | 122451978 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.200 | 6 | 159052542 | non coding transcript exon variant | A/G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 46325463 | intergenic variant | T/C | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 2 | 203843923 | intergenic variant | C/T | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 6 | 159093828 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.200 | 1 | 2608357 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 11 | 128545234 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |