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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
36 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 2015 | 2016 | ||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.200 | 22 | 41169525 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.790 | 0.160 | 12 | 56085070 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.742 | 0.320 | 4 | 152326136 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.776 | 0.160 | 22 | 21772875 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.160 | 1 | 11124517 | missense variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.790 | 0.160 | 2 | 177234232 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.790 | 0.200 | 2 | 177234082 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.200 | 2 | 177234081 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.200 | 2 | 177234080 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.807 | 0.200 | 3 | 179221147 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.776 | 0.320 | 3 | 179199066 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.160 | 3 | 179199141 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |