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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 6 | 33443751 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
5 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.120 | 19 | 7541025 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.320 | 11 | 108244812 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 22 | 38120867 | missense variant | T/C;G | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
40 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.320 | 1 | 160042339 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.240 | 6 | 129143976 | missense variant | C/T | snv | 6.0E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
3 | 1.000 | X | 70492544 | missense variant | G/A | snv | 3.3E-05 | 6.6E-05 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.160 | 8 | 93791324 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
16 | 0.807 | 0.160 | 6 | 152472395 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.240 | 18 | 26862297 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
23 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 9 | 32974556 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.200 | 10 | 78000983 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.200 | 11 | 124924796 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 19 | 13228767 | stop gained | GT/- | delins | 0.700 | 0 | ||||||||
|
25 | 0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins | 0.700 | 0 | ||||||||
|
22 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 0.700 | 0 | ||||||
|
7 | 0.851 | 0.280 | 18 | 23554890 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.200 | 19 | 7561509 | missense variant | C/A;T | snv | 3.8E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 7 | 76302870 | missense variant | G/A | snv | 1.1E-05 | 0.700 | 0 | |||||||
|
19 | 0.742 | 0.200 | 2 | 240788118 | missense variant | G/A | snv | 0.700 | 0 |