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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.882 | 0.200 | 3 | 48467284 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.882 | 0.200 | 3 | 48466711 | frameshift variant | -/G | delins | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.925 | 0.160 | 4 | 25156851 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | X | 68210239 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
15 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.790 | 0.160 | 17 | 75522000 | missense variant | G/T | snv | 9.0E-04 | 9.0E-04 | 0.700 | 0 | ||||||
|
8 | 0.925 | 0.160 | 1 | 152314342 | stop gained | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.851 | 0.160 | 22 | 38120867 | missense variant | T/C;G | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.240 | 12 | 106432421 | missense variant | T/A | snv | 2.7E-04 | 3.0E-04 | 0.700 | 0 | ||||||
|
8 | 0.851 | 0.160 | 10 | 1080454 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | X | 41534892 | splice donor variant | C/AT | 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 | 0.882 | 0.160 | 14 | 105241292 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
7 | 0.882 | 0.160 | 14 | 105228832 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
6 | 0.925 | 0.160 | 1 | 26775673 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.240 | 14 | 58432439 | frameshift variant | G/- | del | 3.1E-03 | 3.4E-03 | 0.700 | 0 | ||||||
|
7 | 0.882 | 0.160 | 14 | 105241282 | missense variant | G/A | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.160 | 14 | 105226674 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.120 | 1 | 215602099 | frameshift variant | CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- | del | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 14 | 58444072 | frameshift variant | AA/- | del | 2.8E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.120 | 12 | 106496115 | missense variant | C/A;T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
7 | 0.851 | 0.200 | 16 | 8806398 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
11 | 0.807 | 0.240 | 3 | 4815135 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 4 | 121804718 | stop gained | C/G;T | snv | 8.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.160 | 2 | 219210782 | missense variant | C/T | snv | 4.4E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2016 | 2016 |