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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 15 | 45023318 | frameshift variant | -/G | delins | 4.5E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.120 | 1 | 45331512 | frameshift variant | -/TC | delins | 0.700 | 0 | ||||||||
|
21 | 0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 3 | 41224630 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
5 | 0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv | 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 | |||||||
|
19 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
23 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
25 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 0.700 | 0 | |||||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.120 | 2 | 201205929 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.120 | 1 | 45333171 | splice acceptor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.700 | 1.000 | 23 | 2002 | 2014 | |||
|
11 | 0.752 | 0.440 | 10 | 121517390 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
37 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
15 | 0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 5 | 112838793 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 0.700 | 0 |