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 | ||||||
|
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 | |||
|
11 | 0.776 | 0.240 | 13 | 113118731 | missense variant | G/A;C | snv | 4.8E-05; 4.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
4 | 0.882 | 0.160 | 19 | 15189004 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
13 | 0.742 | 0.280 | 21 | 25891856 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
8 | 0.790 | 0.240 | 21 | 25891858 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
11 | 0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 1.000 | 19 | 15192118 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
28 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
6 | 0.827 | 0.200 | 6 | 43782077 | missense variant | C/G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 1.000 | 19 | 15192289 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 0.500 | 2 | 2005 | 2005 |