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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 13 | 48463741 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 13 | 48465028 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 13 | 48373493 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.200 | 13 | 48459708 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.763 | 0.280 | 15 | 44711549 | start lost | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.763 | 0.280 | 15 | 44711548 | start lost | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.742 | 0.360 | 17 | 7673800 | missense variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.763 | 0.200 | 17 | 7674887 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.752 | 0.240 | 17 | 7673799 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 0.732 | 0.240 | 17 | 7674233 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.724 | 0.280 | 17 | 7674232 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.724 | 0.360 | 17 | 7675124 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.695 | 0.480 | 17 | 7674944 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.716 | 0.320 | 17 | 7674263 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
18 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
18 | 0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
18 | 0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.662 | 0.440 | 17 | 7675076 | missense variant | T/A;C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 |