| 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 | 0.080 | 5 | 38883969 | missense variant | T/G | snv | 8.3E-02 | 9.7E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.827 | 0.160 | 22 | 31869917 | intron variant | T/G | snv | 0.37 |
|
0.760 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
0.827 | 0.160 | 6 | 32697643 | intergenic variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.900 | 0.909 | 1 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 17713220 | missense variant | T/G | snv | 6.3E-04 | 2.6E-04 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.160 | 17 | 7674247 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.710 | 1.000 | 1 | 2016 | 2019 | ||||||||
|
0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv |
|
0.810 | 1.000 | 1 | 2015 | 2016 | |||||||||
|
0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.708 | 0.280 | 17 | 7673782 | missense variant | T/C;G | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.200 | 2 | 197402637 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.240 | 9 | 21971111 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.200 | 2 | 218583025 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.360 | 17 | 7675124 | missense variant | T/C | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 2 | 71808541 | regulatory region variant | T/C | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.320 | 6 | 32696681 | intergenic variant | T/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 8 | 17646137 | missense variant | T/C | snv | 3.0E-04 | 2.0E-04 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.807 | 0.360 | 6 | 32689801 | TF binding site variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.160 | 17 | 7674248 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |