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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.790 | 0.240 | X | 100407507 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 7 | 100646637 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.040 | 14 | 102012450 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 14 | 102034135 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 10 | 110577847 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 1 | 11117039 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 12 | 116008442 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
37 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
26 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 0.700 | 0 | ||||||
|
10 | 0.851 | 0.320 | 11 | 119278162 | splice acceptor variant | AAAG/- | del | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 11 | 120956935 | missense variant | G/A | snv | 2.9E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.160 | 11 | 120986102 | protein altering variant | CTGGCGCAGGAGGCC/GCT | delins | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
8 | 0.827 | 0.120 | 9 | 127661140 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.200 | 19 | 12843558 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.240 | 6 | 129143976 | missense variant | C/T | snv | 6.0E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
10 | 0.807 | 0.200 | 8 | 132180246 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.200 | 19 | 13235702 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
27 | 0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
64 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 0.700 | 0 |