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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.763 | 0.200 | 19 | 11105588 | stop gained | G/A;C;T | snv | 1.6E-05; 1.6E-05; 8.1E-06 | 0.700 | 0 | |||||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 9 | 127824414 | frameshift variant | ATCGGTGCGG/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 16 | 16198019 | splice acceptor variant | CCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCTGGACAGAGCCAGGACCTG/- | delins | 0.700 | 0 | ||||||||
|
1 | 19 | 15192490 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
15 | 0.752 | 0.360 | MT | 3243 | non coding transcript exon variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 19 | 15192134 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.925 | 0.200 | 16 | 16159505 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
12 | 0.882 | 0.280 | 16 | 16154638 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
9 | 0.925 | 0.200 | 16 | 16203407 | splice donor variant | AC/- | delins | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.240 | 16 | 16185039 | splice region variant | A/C | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.200 | 16 | 16190334 | missense variant | G/A | snv | 2.0E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.060 | 1.000 | 6 | 1995 | 2019 | |||
|
25 | 0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 | 0.020 | 0.500 | 2 | 1997 | 2016 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.914 | 58 | 1998 | 2018 | |||
|
7 | 0.807 | 0.160 | 1 | 11792345 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.050 | 1.000 | 5 | 1999 | 2016 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.030 | 1.000 | 3 | 1999 | 2016 | |||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.020 | 0.500 | 2 | 2000 | 2014 | ||||
|
25 | 0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 | 0.810 | 1.000 | 6 | 2001 | 2016 | ||||
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.030 | 1.000 | 3 | 2001 | 2008 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.030 | 1.000 | 3 | 2002 | 2014 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.020 | 1.000 | 2 | 2002 | 2007 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.020 | 1.000 | 2 | 2002 | 2007 | |||
|
6 | 0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 | 0.020 | 0.500 | 2 | 2002 | 2015 |