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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.200 | 17 | 7676040 | missense variant | C/A;G;T | snv | 4.8E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 7673534 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676210 | stop gained | -/CATT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674972 | splice acceptor variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 17 | 7675175 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675197 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.200 | 17 | 7674191 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
21 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 0.700 | 0 | |||||||
|
15 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
28 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 7676011 | stop gained | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.752 | 0.400 | 3 | 179210192 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
37 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.400 | 3 | 179199088 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.776 | 0.280 | 10 | 87952143 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.200 | 17 | 7673704 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675997 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 125627605 | splice acceptor variant | A/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 83462555 | frameshift variant | -/T | delins | 7.0E-05 | 0.700 | 0 |