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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
12 | 0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.240 | 18 | 26862297 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.240 | X | 53573795 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
44 | 0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
21 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
24 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.280 | 6 | 78982908 | frameshift variant | CTTT/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.160 | 6 | 79003821 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 10 | 76944829 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 22 | 42212712 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 22 | 42213495 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.200 | X | 53405268 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
17 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
11 | 0.790 | 0.320 | 8 | 60801598 | splice region variant | G/C | snv | 0.700 | 0 | ||||||||
|
9 | 0.790 | 0.320 | 12 | 112489069 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 5 | 151856384 | splice acceptor variant | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.280 | 5 | 60898350 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
11 | 0.776 | 0.280 | 11 | 66530934 | frameshift variant | TG/- | del | 1.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.240 | 15 | 42399616 | missense variant | C/T | snv | 4.0E-06; 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
9 | 1.000 | 0.160 | 10 | 110593202 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 19 | 50323609 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.851 | 0.280 | X | 2958423 | missense variant | C/G | snv | 7.1E-05 | 3.8E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 |