| 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 | 0.240 | 10 | 61958720 | intron variant | C/A | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 15 | 74044940 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.724 | 0.240 | 5 | 1287079 | 3 prime UTR variant | G/A | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.160 | 2 | 203729789 | intron variant | T/C | snv | 0.15 | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.040 | 7 | 50392398 | intron variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 10 | 61961417 | intron variant | C/G;T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 10 | 103093198 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 19 | 43553481 | missense variant | C/T | snv | 6.4E-05 | 1.1E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.040 | 1 | 15507011 | missense variant | C/G;T | snv | 4.0E-06; 1.1E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.080 | 17 | 42690793 | missense variant | C/T | snv | 4.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 16 | 2713697 | missense variant | G/T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 1 | 36467833 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.160 | 7 | 7932654 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 19 | 45099523 | intron variant | T/C | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 22 | 39017772 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.200 | 8 | 38415905 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.200 | 1 | 212859113 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 13 | 73926833 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.200 | 8 | 2789080 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 |