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 | 0.120 | 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 | ||||||||
|
9 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.120 | 5 | 112839461 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 5 | 112838953 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/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 | |||||||
|
10 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1 | 26696438 | missense variant | G/T | snv | 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 | |||||||
|
2 | 1.000 | 0.080 | 2 | 201187798 | missense variant | T/C | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 3 | 41224630 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
14 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | 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 | |||||
|
5 | 0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 12 | 56088138 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.851 | 0.160 | 12 | 56088557 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.752 | 0.440 | 10 | 121517390 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
17 | 0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
25 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
15 | 0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 | 0.700 | 0 |