Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.200 | 19 | 11106668 | missense variant | T/A | snv | 3.2E-05 | 4.2E-05 | 0.700 | 1.000 | 2 | 1992 | 1992 | |||
|
8 | 0.882 | 0.200 | 7 | 5987033 | frameshift variant | GC/ACT | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
9 | 0.851 | 0.240 | 12 | 21913005 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.925 | 0.200 | 5 | 177283796 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.160 | 3 | 196707860 | stop gained | -/T | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
18 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
38 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
8 | 0.790 | 0.160 | 16 | 56519791 | stop gained | G/C | snv | 5.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
12 | 0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
18 | 0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
58 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
18 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 0.700 | 0 | ||||||||
|
32 | 0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
38 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
30 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
38 | 0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.160 | 11 | 8100575 | frameshift variant | AGAG/-;AG | delins | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 1 | 36139776 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
48 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.240 | 7 | 33152811 | stop gained | C/T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.320 | 2 | 169493750 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.280 | 16 | 56502807 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.120 | 11 | 66529902 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
17 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 15 | 72735944 | frameshift variant | G/- | del | 0.700 | 0 |