| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 6 | 32665055 | missense variant | A/C;T | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 |
|
0.900 | 0.833 | 2 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 13 | 67148073 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.724 | 0.360 | 17 | 7673797 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 7 | 116783402 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
1.000 | 0.080 | 14 | 54411612 | missense variant | A/G | snv | 3.4E-04 | 2.4E-04 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.882 | 0.240 | 6 | 32635230 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 6 | 32699985 | intergenic variant | A/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 |
|
0.740 | 0.600 | 1 | 2011 | 2015 | ||||||||
|
0.776 | 0.360 | 6 | 32421871 | intergenic variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.200 | 6 | 32695787 | intergenic variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.280 | 6 | 32697951 | intergenic variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.200 | 6 | 32698518 | intergenic variant | A/G | snv | 0.15 |
|
0.850 | 0.800 | 1 | 2013 | 2018 | ||||||||
|
0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.740 | 0.800 | 1 | 2012 | 2015 | ||||||||
|
0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv |
|
0.840 | 1.000 | 2 | 2011 | 2017 | |||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.730 | 1.000 | 1 | 2008 | 2019 | ||||||||
|
0.925 | 0.120 | 6 | 30233096 | downstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv |
|
0.740 | 0.800 | 1 | 2012 | 2018 | |||||||||
|
0.776 | 0.200 | 3 | 179210293 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.200 | 4 | 166008836 | intron variant | A/T | snv | 0.18 |
|
0.740 | 1.000 | 1 | 2017 | 2019 | ||||||||
|
0.925 | 0.120 | 2 | 191078546 | intron variant | A/T | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.200 | 2 | 177234080 | missense variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.360 | 17 | 7673800 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 14 | 54411563 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-05 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv |
|
0.700 | 0 |