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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.120 | 11 | 103255530 | missense variant | T/C | snv | 1.9E-05 | 7.0E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.882 | 0.120 | 11 | 103116677 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.320 | 3 | 196306939 | splice region variant | T/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 14 | 58487978 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.120 | 2 | 43809711 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 11 | 103253342 | missense variant | G/A;T | snv | 6.0E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.790 | 0.160 | 4 | 5719239 | intron variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.851 | 0.200 | 11 | 103135949 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 2 | 43805247 | splice donor variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.925 | 0.120 | 11 | 103184880 | intron variant | G/A | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
8 | 0.882 | 0.240 | 17 | 6624770 | synonymous variant | G/A | snv | 6.5E-05 | 0.700 | 0 | |||||||
|
9 | 0.882 | 0.120 | 11 | 103287559 | synonymous variant | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.120 | 2 | 43794508 | stop gained | G/A | snv | 6.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
7 | 0.851 | 0.240 | 12 | 76347023 | frameshift variant | CTAA/- | delins | 4.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 1.000 | 0.120 | 11 | 103125293 | stop gained | C/T | snv | 4.5E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.120 | 11 | 103122879 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 2 | 43794485 | missense variant | C/G | snv | 2.4E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
9 | 0.807 | 0.200 | 4 | 39225027 | stop gained | C/G | snv | 1.7E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
14 | 0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 12 | 47978098 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||||
|
4 | 1.000 | 4 | 139454380 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
5 | 0.882 | 0.200 | 4 | 39278156 | frameshift variant | ACGG/- | delins | 8.4E-06 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.120 | 11 | 103176241 | frameshift variant | AA/- | delins | 1.0E-05 | 0.700 | 0 |