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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 2 | 218649090 | frameshift variant | TT/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
43 | 0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins | 0.700 | 0 | ||||||||
|
53 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
26 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 0.700 | 0 | ||||||
|
7 | 0.851 | 0.080 | 17 | 68386068 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.925 | 0.040 | 19 | 29702747 | missense variant | T/C | snv | 2.3E-03 | 1.1E-03 | 0.710 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.925 | 0.120 | 8 | 42838177 | missense variant | T/C | snv | 5.2E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 18 | 11689847 | missense variant | T/C | snv | 2.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 1.000 | 0.040 | 21 | 25975997 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
37 | 0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.240 | 3 | 25580574 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | X | 41524036 | splice acceptor variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
14 | 0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
26 | 0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 2 | 190208898 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.882 | 0.080 | 15 | 52340235 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 3 | 25593603 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 2 | 218643341 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
64 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.040 | 11 | 2165727 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 9 | 129818877 | missense variant | G/A;C | snv | 3.0E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
13 | 0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 18 | 23534477 | missense variant | G/A;C | snv | 1.2E-04 | 0.700 | 0 | |||||||||
|
57 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 0.700 | 0 |