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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
37 | 0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
11 | 0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 12 | 23740986 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
18 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
34 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.120 | 16 | 9768994 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.280 | X | 53536209 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.280 | X | 53536488 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | X | 53536580 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | X | 53536600 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.440 | X | 53537626 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | X | 53591113 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.280 | X | 53615786 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.280 | X | 53615815 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.240 | X | 53634235 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.240 | X | 53647375 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | X | 77633315 | missense variant | C/A | snv | 0.700 | 0 | ||||||||||
|
33 | 0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
44 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 0.700 | 0 | ||||||||
|
16 | 0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
51 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 0.700 | 0 | ||||||||
|
28 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 0.700 | 0 | |||||||
|
38 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
35 | 0.742 | 0.400 | 16 | 5082676 | splice region variant | A/G | snv | 1.0E-04 | 1.3E-04 | 0.700 | 0 |