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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.827 | 0.120 | 11 | 103220720 | missense variant | A/G | snv | 2.4E-04 | 2.6E-04 | 0.700 | 0 | ||||||
|
6 | 1.000 | 0.120 | 12 | 109796650 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | 11 | 103176241 | frameshift variant | AA/- | delins | 1.0E-05 | 0.700 | 0 | |||||||
|
9 | 0.851 | 0.120 | 3 | 146079255 | missense variant | C/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
35 | 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 | |||||||
|
97 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
8 | 0.925 | 0.160 | 1 | 225403404 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.120 | 11 | 103184880 | intron variant | G/A | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
9 | 0.851 | 0.120 | 3 | 146071125 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.280 | X | 22219070 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
27 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.120 | 11 | 103116677 | stop gained | T/A | snv | 0.700 | 0 |