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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.120 | 3 | 89341043 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.925 | 0.280 | 16 | 89279750 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
2 | 3 | 8745821 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
6 | 0.925 | 0.080 | 3 | 8745547 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
5 | 1.000 | 0.120 | 16 | 56887967 | missense variant | G/A | snv | 3.7E-04 | 4.1E-04 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.120 | 19 | 53810777 | missense variant | G/A;C | snv | 3.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.763 | 0.320 | 17 | 50200388 | intron variant | C/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 17 | 50185660 | intron variant | C/G;T | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 3 | 49530915 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
6 | 0.882 | 0.160 | 20 | 45420215 | frameshift variant | AAAG/- | delins | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.080 | 20 | 45416526 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
2 | X | 31773986 | missense variant | T/C | snv | 1.9E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
1 | 11 | 2152217 | intron variant | T/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
22 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
5 | 12 | 21215788 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
45 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.020 | 1.000 | 2 | 2012 | 2013 | |||
|
16 | 0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
43 | 0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 9 | 134842570 | 3 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.120 | 6 | 129460287 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
47 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 |