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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.160 | 12 | 112488444 | missense variant | G/A;T | snv | 0.800 | 1.000 | 11 | 2002 | 2016 | |||||
|
3 | 0.882 | 0.160 | 12 | 112488454 | missense variant | G/C | snv | 0.800 | 1.000 | 11 | 2002 | 2016 | |||||
|
10 | 0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 11 | 2002 | 2016 | ||||
|
13 | 0.752 | 0.280 | 12 | 112473023 | missense variant | A/C;G | snv | 0.800 | 1.000 | 10 | 2002 | 2016 | |||||
|
24 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 10 | 2002 | 2016 | |||
|
15 | 0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 19 | 2001 | 2018 | |||
|
5 | 0.827 | 0.160 | 12 | 112489068 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 11 | 2002 | 2016 | |||
|
9 | 0.790 | 0.320 | 12 | 112489069 | missense variant | G/T | snv | 0.700 | 1.000 | 11 | 2002 | 2016 | |||||
|
13 | 0.742 | 0.240 | 12 | 112489104 | missense variant | C/A;G | snv | 0.700 | 1.000 | 11 | 2002 | 2016 | |||||
|
5 | 0.851 | 0.160 | 12 | 112489093 | missense variant | AG/CC | mnv | 0.700 | 1.000 | 10 | 2002 | 2016 | |||||
|
19 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
17 | 0.742 | 0.280 | 12 | 112450395 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
47 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
27 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.742 | 0.320 | 12 | 112450398 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.240 | 12 | 112450352 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.240 | 12 | 112450354 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.280 | 12 | 112450361 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.240 | 12 | 112450408 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
39 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
18 | 0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
20 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.790 | 0.360 | 12 | 112489084 | missense variant | G/A;C;T | snv | 0.700 | 0 |