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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
24 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
15 | 0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
34 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
21 | 0.695 | 0.280 | 17 | 7674873 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
31 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.683 | 0.320 | 17 | 7675077 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.689 | 0.480 | 17 | 7673778 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
23 | 0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.701 | 0.400 | 17 | 7674250 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
21 | 0.724 | 0.360 | 17 | 7674885 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.752 | 0.240 | 4 | 152326215 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
21 | 0.695 | 0.440 | 17 | 7675218 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.708 | 0.280 | 17 | 7673782 | missense variant | T/C;G | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.160 | 4 | 152323032 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
32 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
25 | 0.662 | 0.480 | 17 | 7673779 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.080 | 19 | 52212718 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.716 | 0.440 | 17 | 7675216 | splice acceptor variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.752 | 0.240 | 4 | 152326214 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.732 | 0.240 | 4 | 152328233 | missense variant | G/A;C | snv | 4.3E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 |