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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.827 | 0.160 | 11 | 71444952 | start lost | T/C | snv | 1.2E-05; 4.0E-06 | 3.5E-05 | 0.700 | 0 | ||||||
|
8 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
16 | 0.732 | 0.320 | 20 | 58891811 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.240 | 10 | 122506817 | stop gained | C/T | snv | 8.0E-06 | 3.5E-05 | 0.700 | 0 | ||||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
40 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 5 | 140679127 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.320 | 1 | 165728096 | frameshift variant | GC/- | del | 0.700 | 0 | ||||||||
|
18 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
19 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
17 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
97 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
7 | 0.851 | 0.280 | 18 | 23554890 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
23 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
16 | 0.716 | 0.440 | 2 | 190986921 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
19 | 0.732 | 0.440 | 5 | 177235863 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.040 | 4 | 93515346 | missense variant | C/T | snv | 4.8E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.240 | 5 | 34937431 | stop gained | C/T | snv | 2.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
17 | 0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
25 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 0.700 | 0 | ||||||
|
8 | 0.827 | 0.280 | 18 | 23538564 | missense variant | G/C | snv | 1.2E-04 | 2.1E-04 | 0.700 | 0 | ||||||
|
10 | 0.807 | 0.200 | 10 | 87925551 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
35 | 0.701 | 0.560 | 10 | 76891709 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 21 | 25891795 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1994 | 1994 | |||
|
9 | 0.851 | 0.320 | 18 | 23536736 | missense variant | A/G | snv | 2.0E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 |