| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.850 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.830 | 1.000 | 3 | 2010 | 2016 | |||||||||
|
1.000 | 0.040 | 16 | 30471173 | upstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 3 | 2012 | 2017 | |||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.925 | 0.120 | 16 | 68557327 | intron variant | A/C;T | snv | 0.77; 7.8E-06 |
|
0.810 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 |
|
0.800 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
1.000 | 0.040 | 7 | 107839870 | intergenic variant | T/A;C;G | snv |
|
0.800 | 1.000 | 3 | 2012 | 2017 | |||||||||
|
0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.807 | 0.160 | 5 | 159400761 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
1.000 | 0.040 | 7 | 2750246 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 3 | 2011 | 2017 | |||||||||
|
0.925 | 0.120 | 1 | 161502368 | upstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2015 | |||||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.790 | 0.160 | 2 | 218145423 | regulatory region variant | C/G;T | snv |
|
0.810 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 198658398 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.925 | 0.040 | 10 | 99524480 | upstream gene variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.827 | 0.120 | 20 | 44440356 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.827 | 0.120 | 11 | 114559688 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.882 | 0.080 | 21 | 44195858 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.807 | 0.120 | 2 | 227795396 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2016 | |||||||||
|
0.827 | 0.200 | 6 | 32463370 | intron variant | A/G;T | snv |
|
0.810 | 1.000 | 2 | 2008 | 2018 | |||||||||
|
0.827 | 0.120 | 3 | 46387167 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 4 | 105185196 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.120 | 5 | 132421409 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |