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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.882 | 0.120 | 2 | 178577785 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.851 | 0.160 | 12 | 25227349 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.280 | X | 134425256 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
36 | 0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 | 0.700 | 0 | |||||||
|
13 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
24 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 0.700 | 0 | |||||||
|
15 | 0.827 | 0.360 | 17 | 46171276 | stop gained | G/A | snv | 5.2E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
18 | 0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
17 | 0.790 | 0.400 | 1 | 92833544 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 5 | 173232833 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
59 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 12 | 114398639 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
23 | 0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.240 | 18 | 44951954 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.080 | X | 41210540 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | X | 72490973 | missense variant | A/C;T | snv | 0.700 | 0 | |||||||||
|
4 | 0.882 | 0.160 | 1 | 155910693 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.320 | 8 | 60781285 | frameshift variant | AA/T | delins | 0.700 | 0 | ||||||||
|
7 | 1.000 | 9 | 83972190 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
|
7 | 0.807 | 0.120 | 11 | 61783599 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.040 | 15 | 74345160 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.240 | 16 | 3729444 | missense variant | C/T | snv | 0.700 | 0 |