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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 17 | 80213815 | missense variant | C/A;T | snv | 4.4E-06; 3.3E-04 |
|
0.820 | 1.000 | 15 | 1997 | 2017 | ||||||||
|
0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 |
|
0.820 | 1.000 | 5 | 1997 | 2017 | |||||||
|
1.000 | 0.120 | 17 | 80217061 | missense variant | G/A | snv | 1.5E-04 | 2.0E-04 |
|
0.810 | 1.000 | 11 | 1997 | 2017 | |||||||
|
1.000 | 0.120 | 17 | 80210663 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.810 | 1.000 | 8 | 1997 | 2017 | |||||||
|
1.000 | 0.120 | 17 | 80214757 | missense variant | C/T | snv | 1.6E-05 |
|
0.800 | 1.000 | 12 | 1997 | 2017 | ||||||||
|
1.000 | 0.120 | 17 | 80214672 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 |
|
0.800 | 1.000 | 8 | 1997 | 2017 | |||||||
|
0.925 | 0.120 | 17 | 80210622 | missense variant | C/T | snv | 6.8E-05 | 2.8E-05 |
|
0.800 | 1.000 | 7 | 1997 | 2017 | |||||||
|
1.000 | 0.120 | 17 | 80210856 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 |
|
0.800 | 1.000 | 6 | 1997 | 2017 | ||||||||
|
0.925 | 0.120 | 17 | 80217084 | missense variant | G/A;C | snv | 4.4E-06; 9.3E-05 |
|
0.800 | 1.000 | 5 | 1997 | 2017 | ||||||||
|
1.000 | 0.120 | 17 | 80214218 | missense variant | C/G;T | snv | 4.1E-06 |
|
0.800 | 1.000 | 5 | 1997 | 2017 | ||||||||
|
1.000 | 0.120 | 17 | 80210664 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 |
|
0.800 | 1.000 | 5 | 1997 | 2017 | |||||||
|
1.000 | 0.120 | 17 | 80210822 | missense variant | T/C | snv | 3.2E-05 | 2.8E-05 |
|
0.800 | 1.000 | 4 | 1997 | 2017 | |||||||
|
1.000 | 0.120 | 17 | 80217060 | missense variant | C/T | snv |
|
0.800 | 1.000 | 4 | 1997 | 2017 | |||||||||
|
1.000 | 0.120 | 17 | 80210794 | missense variant | G/T | snv | 2.0E-05 |
|
0.800 | 1.000 | 3 | 1997 | 2017 | ||||||||
|
1.000 | 0.120 | 17 | 80210898 | missense variant | C/T | snv | 2.8E-05 | 4.2E-05 |
|
0.800 | 1.000 | 3 | 1997 | 2017 | |||||||
|
0.827 | 0.320 | 17 | 80214291 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.800 | 1.000 | 2 | 1997 | 2017 | |||||||
|
1.000 | 0.120 | 17 | 80214738 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 |
|
0.800 | 1.000 | 0 | 1997 | 2017 | |||||||
|
1.000 | 0.120 | 17 | 80210881 | frameshift variant | G/- | delins | 6.3E-05 |
|
0.700 | 1.000 | 9 | 1997 | 2013 | ||||||||
|
0.882 | 0.120 | 17 | 80213815 | missense variant | C/A;T | snv | 4.4E-06; 3.3E-04 |
|
0.700 | 1.000 | 8 | 2003 | 2018 | ||||||||
|
0.882 | 0.120 | 17 | 80213815 | missense variant | C/A;T | snv | 4.4E-06; 3.3E-04 |
|
0.700 | 1.000 | 8 | 2003 | 2018 | ||||||||
|
0.925 | 0.120 | 17 | 80210622 | missense variant | C/T | snv | 6.8E-05 | 2.8E-05 |
|
0.700 | 1.000 | 8 | 2003 | 2018 | |||||||
|
0.925 | 0.120 | 17 | 80210622 | missense variant | C/T | snv | 6.8E-05 | 2.8E-05 |
|
0.700 | 1.000 | 8 | 2003 | 2018 | |||||||
|
0.925 | 0.120 | 17 | 80210933 | frameshift variant | -/G | delins | 3.7E-05 | 3.5E-05 |
|
0.700 | 1.000 | 7 | 1997 | 2013 | |||||||
|
0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 |
|
0.700 | 1.000 | 6 | 1997 | 2013 | |||||||
|
1.000 | 0.120 | 17 | 80213846 | missense variant | C/T | snv | 1.7E-05 | 4.9E-05 |
|
0.700 | 1.000 | 6 | 1997 | 2013 |