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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | X | 151962587 | stop gained | G/T | snv | 1.1E-05 | 2.8E-05 | 0.700 | 0 | ||||||||
|
1 | 12 | 122377616 | stop gained | G/A | snv | 2.1E-05 | 0.700 | 0 | |||||||||
|
4 | 0.925 | 0.080 | 4 | 1801519 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.280 | 9 | 137815998 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.320 | 1 | 27549887 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
19 | 0.851 | 0.280 | 16 | 89280526 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.280 | X | 22219070 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.320 | 20 | 45894704 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 3 | 1996 | 2014 | |||||
|
4 | 0.925 | 0.160 | 12 | 115963422 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.080 | 1 | 155910695 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.160 | 1 | 155904739 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
45 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.200 | 6 | 43043631 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
25 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 0.700 | 0 | ||||||
|
37 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2007 | ||||
|
11 | 0.827 | 0.320 | 6 | 157207109 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 21 | 37490393 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 21 | 37490244 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 21 | 37486513 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 21 | 37496119 | frameshift variant | AGAT/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
8 | 0.925 | 21 | 37480768 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 0.925 | 21 | 37505442 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 21 | 37478285 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
22 | 0.776 | 0.280 | 7 | 66638394 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 0 |