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 | 0.925 | 0.200 | 22 | 50083183 | intron variant | A/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.925 | 0.120 | 8 | 43192413 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 10 | 180034 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.080 | 10 | 87933075 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.320 | 10 | 87933175 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 10 | 87957885 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
36 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
29 | 0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 9 | 14307442 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
7 | 0.925 | X | 20167669 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
33 | 0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 7 | 105107527 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
38 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
3 | 1.000 | 9 | 14307286 | stop gained | G/A;T | snv | 2.0E-05 | 0.700 | 0 | ||||||||
|
14 | 0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.080 | 10 | 87957951 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.200 | 11 | 65885181 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 10 | 87960913 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.400 | 6 | 157207241 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.160 | 11 | 68157849 | stop gained | C/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2006 | ||||
|
11 | 0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 |