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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
17 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.160 | 1 | 26775673 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
19 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.120 | 1 | 215602099 | frameshift variant | CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161417083 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 2 | 161417794 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161423815 | frameshift variant | -/GCCCGCAGTC | delins | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.080 | 2 | 161423825 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 161423830 | frameshift variant | GC/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.160 | 2 | 161423752 | frameshift variant | -/GGCTGCA | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 3 | 25593603 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.240 | 3 | 25580574 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.160 | 4 | 25156851 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
34 | 0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
8 | 0.882 | 0.240 | 4 | 523849 | missense variant | C/T | snv | 6.7E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
34 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 | 0.700 | 0 | |||||||
|
53 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
57 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
24 | 0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
64 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
15 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 0.700 | 0 |