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 | X | 108595507 | coding sequence variant | AAGGTGACA/- | delins | 0.700 | 0 | ||||||||||
|
9 | 0.790 | 0.240 | 12 | 112450408 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 1.000 | 4 | 2002 | 2009 | |||||
|
23 | 0.807 | 0.280 | 12 | 112486482 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
8 | 0.851 | 0.160 | 12 | 112489047 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
37 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
24 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
24 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
23 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
35 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2007 | ||||
|
12 | 0.851 | 0.160 | 7 | 140778006 | missense variant | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
35 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2006 | 2006 | |||||
|
12 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
8 | 0.925 | 0.080 | 1 | 155910695 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
24 | 0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.200 | 20 | 19992201 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | 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 | ||||||
|
13 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
27 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 0.700 | 0 | |||||||
|
21 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
43 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
29 | 0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv | 0.700 | 0 |