| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 15 | 41271752 | intron variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 |
|
0.800 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
0.807 | 0.120 | 2 | 240630275 | missense variant | C/T | snv | 0.16; 9.4E-06 | 0.19 |
|
0.710 | 1.000 | 3 | 2015 | 2019 | |||||||
|
0.827 | 0.120 | 1 | 7962137 | intron variant | G/T | snv | 0.22 |
|
0.700 | 1.000 | 3 | 2015 | 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 | |||||||||
|
1.000 | 0.040 | 11 | 96290263 | intron variant | G/A | snv | 0.26 |
|
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 | |||||||||
|
0.925 | 0.120 | 22 | 49997051 | missense variant | A/G | snv | 0.56 | 0.55 |
|
0.800 | 1.000 | 3 | 2010 | 2017 | |||||||
|
0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 |
|
0.800 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
0.827 | 0.120 | 16 | 23853269 | intron variant | T/C | snv | 0.58 |
|
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 | |||||||||
|
0.882 | 0.160 | 11 | 1852842 | upstream gene variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
0.827 | 0.120 | 7 | 99161494 | intergenic variant | C/A | snv | 0.67 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 2569899 | downstream gene variant | C/T | snv | 0.51 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
0.925 | 0.120 | 1 | 161502368 | upstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2015 | |||||||||
|
0.827 | 0.120 | 11 | 58641214 | intron variant | G/T | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
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 | 0.200 | 11 | 76588605 | upstream gene variant | C/A | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.827 | 0.120 | 12 | 68114342 | intron variant | G/A;T | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.790 | 0.160 | 2 | 218145423 | regulatory region variant | C/G;T | snv |
|
0.810 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
1.000 | 0.040 | 5 | 593968 | intergenic variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 |