| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.200 | 12 | 111535554 | intron variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.752 | 0.240 | 11 | 95578258 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.160 | 10 | 99523573 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.763 | 0.320 | 12 | 111472415 | intron variant | A/G | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.120 | 14 | 36269155 | regulatory region variant | C/T | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.240 | 5 | 1285859 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.160 | 19 | 10489742 | synonymous variant | G/A | snv | 1.9E-02 | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.320 | 14 | 68283210 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.160 | 10 | 62020112 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.200 | 9 | 97786731 | intron variant | A/G | snv | 0.72 |
|
0.820 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.827 | 0.120 | 7 | 128939148 | intron variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 7 | 37342861 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.080 | 16 | 50301163 | missense variant | C/A | snv | 4.3E-03 | 3.6E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.040 | 2 | 1403856 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
0.851 | 0.040 | 8 | 118939661 | intron variant | A/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 19 | 4837545 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.280 | 6 | 408079 | 3 prime UTR variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.040 | 15 | 38555562 | intron variant | A/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |