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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 6 | 33443751 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
15 | 0.827 | 0.240 | 18 | 55229003 | frameshift variant | -/ATTG | delins | 0.700 | 0 | ||||||||
|
7 | 1.000 | X | 71132465 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
33 | 0.776 | 0.280 | 12 | 51765746 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del | 0.700 | 0 | ||||||||
|
15 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
53 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 7 | 100646637 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
64 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 0.700 | 0 | |||||||
|
9 | 0.851 | 0.320 | X | 53534144 | missense variant | C/G;T | snv | 9.5E-06 | 0.700 | 0 | |||||||
|
40 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
24 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 0.700 | 0 | |||||||
|
17 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.080 | 2 | 161423825 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
53 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 3 | 41236421 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
37 | 0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
11 | 0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 12 | 23740986 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
18 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
34 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.120 | 16 | 9768994 | missense variant | C/T | snv | 0.700 | 0 |