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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv | 0.700 | 0 | ||||||||
|
26 | 0.732 | 0.320 | 3 | 41227287 | protein altering variant | CCACAAGCAG/T | delins | 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 | ||||||||
|
17 | 0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
50 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
37 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 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 | ||||||
|
6 | 0.851 | 0.120 | 7 | 30019110 | frameshift variant | -/G | delins | 5.5E-04 | 5.4E-04 | 0.700 | 0 | ||||||
|
10 | 0.790 | 0.280 | 17 | 50196337 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.732 | 0.200 | 15 | 48420752 | missense variant | A/G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.851 | 0.240 | 15 | 48452676 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
87 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
22 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
57 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.320 | 6 | 157207109 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
24 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.400 | 6 | 157207241 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.040 | 12 | 13608611 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
56 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 0.700 | 0 |