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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.882 | 0.040 | 7 | 44242328 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.851 | 0.280 | 2 | 1484815 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.040 | 14 | 102012450 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
22 | 0.790 | 0.160 | 18 | 10714931 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
22 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
37 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | ||||||||
|
25 | 0.732 | 0.520 | 20 | 32433408 | stop gained | C/T | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.080 | 19 | 38469119 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
34 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | X | 123428020 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
27 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.851 | 0.160 | 11 | 1442607 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.040 | 19 | 38499718 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.040 | 9 | 110800743 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
25 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 16 | 70481397 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
20 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
17 | 0.851 | 0.240 | 17 | 63947062 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.882 | 0.040 | 5 | 150251808 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.827 | 0.200 | X | 49075573 | stop gained | G/A;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
33 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.240 | 10 | 87894110 | splice donor variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.280 | 14 | 74486378 | stop gained | G/T | snv | 8.4E-06 | 0.700 | 0 | |||||||
|
18 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 0.700 | 0 |