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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.700 | 0 | ||||||
|
14 | 0.790 | 0.160 | X | 20193547 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
21 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
18 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.240 | 9 | 137108433 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.240 | 3 | 142568059 | splice region variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 3 | 142507967 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
21 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | ||||||||
|
24 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.280 | 6 | 78982908 | frameshift variant | CTTT/- | delins | 0.700 | 0 | ||||||||
|
45 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
26 | 0.742 | 0.280 | 7 | 23165737 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 1.000 | 12 | 12150835 | splice donor variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
3 | 1.000 | 12 | 12138536 | splice acceptor variant | T/G | snv | 0.700 | 0 | |||||||||
|
3 | 1.000 | 12 | 12165232 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
8 | 0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.280 | 17 | 70175691 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.827 | 0.240 | 6 | 50838070 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 |