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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 |
|
0.020 | 1.000 | 2 | 2015 | 2020 | ||||||||
|
0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 |
|
0.720 | 1.000 | 3 | 2010 | 2019 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 2 | 217059671 | downstream gene variant | G/A;C;T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 6 | 161785829 | missense variant | G/A;C;T | snv | 4.0E-06; 1.2E-05; 9.6E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 20501166 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 13 | 28036046 | splice region variant | A/G | snv | 0.71 | 0.61 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 7 | 116677823 | intron variant | G/A | snv | 0.87 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.080 | 2 | 120487546 | intergenic variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 2 | 136115346 | missense variant | C/G | snv | 2.0E-05 | 4.9E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.160 | 19 | 45357368 | missense variant | G/C | snv | 1.2E-03 | 4.4E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 22 | 30940834 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.320 | 13 | 30457747 | 3 prime UTR variant | C/T | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.724 | 0.360 | 13 | 30467458 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 22 | 41117723 | missense variant | G/A;C | snv | 6.1E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 16 | 46822677 | intron variant | T/C | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.752 | 0.240 | 22 | 28695800 | missense variant | T/A;C;G | snv | 2.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |