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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.280 | 5 | 36984990 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
25 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.320 | 12 | 112489080 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 12 | 112477651 | missense variant | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.400 | X | 77520832 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.400 | 16 | 3026140 | missense variant | T/A | snv | 1.7E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
8 | 0.827 | 0.280 | 16 | 8811099 | stop gained | G/A;T | snv | 1.1E-04; 5.2E-06 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.280 | 13 | 38691375 | missense variant | G/A;T | snv | 3.5E-03 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.200 | 2 | 31580683 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
12 | 0.827 | 0.160 | 5 | 177256956 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.160 | 10 | 75030037 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
37 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.120 | 1 | 43431458 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.360 | 11 | 61774051 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
18 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
27 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 0.700 | 0 | |||||||
|
13 | 0.776 | 0.400 | 16 | 3027379 | missense variant | G/A;T | snv | 1.8E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.480 | 17 | 68530405 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
39 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
20 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
16 | 0.763 | 0.280 | 2 | 39022773 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 |