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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.080 | 9 | 127666193 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.742 | 0.200 | 2 | 240788118 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.851 | 0.120 | 6 | 132472372 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
34 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
19 | 0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
17 | 0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
31 | 0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
12 | 0.851 | 0.120 | 14 | 77026534 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | X | 111681268 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 2 | 65010729 | missense variant | G/A | snv | 2.3E-04 | 1.2E-04 | 0.700 | 0 | ||||||
|
12 | 0.827 | 0.200 | 19 | 39480879 | stop gained | C/A;G;T | snv | 3.1E-03; 4.6E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 16 | 2085323 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.080 | 19 | 6213787 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
13 | 0.790 | 0.280 | 20 | 38535152 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.827 | 0.200 | 19 | 39482885 | stop gained | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.080 | 12 | 121442391 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
8 | 0.827 | 0.120 | 9 | 127661140 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
54 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | X | 49075135 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.200 | 10 | 87925551 | missense variant | A/C;G | snv | 0.700 | 0 |