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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 14 | 101986027 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.160 | 15 | 72346598 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 1.000 | 0.040 | 2 | 165373339 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
53 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.080 | 3 | 197704686 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.160 | X | 54812169 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | X | 34656995 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 3 | 6861849 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.040 | 3 | 7578878 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.040 | 3 | 7578930 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 19 | 38473772 | splice donor variant | G/A;C | snv | 0.700 | 0 | ||||||||||
|
11 | 0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
34 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.160 | 15 | 72346296 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 1 | 40091398 | missense variant | T/A | snv | 7.0E-04 | 6.0E-04 | 0.700 | 0 | ||||||
|
17 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.160 | 17 | 58206479 | missense variant | A/C | snv | 5.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
13 | 0.851 | 0.240 | 17 | 81934931 | missense variant | C/T | snv | 2.4E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
7 | 0.851 | 0.160 | 9 | 93447639 | missense variant | G/A | snv | 6.8E-05 | 2.2E-04 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 5 | 70951939 | splice acceptor variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1 | 40092054 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||||
|
23 | 0.790 | 0.240 | 14 | 77027279 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.360 | 17 | 58208003 | splice acceptor variant | T/C;G | snv | 7.0E-06 | 0.700 | 0 |