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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.160 | X | 69616488 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.120 | 2 | 8730956 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.280 | 2 | 144389932 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.240 | 9 | 137108433 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.851 | 0.240 | 7 | 140753339 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
27 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
36 | 0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 | 0.700 | 0 | |||||||
|
30 | 0.752 | 0.480 | 2 | 144399104 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
43 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.925 | 3 | 9741340 | frameshift variant | AG/T | delins | 0.700 | 0 | |||||||||
|
12 | 0.790 | 0.320 | 16 | 8811660 | missense variant | T/C | snv | 2.9E-04 | 4.1E-04 | 0.700 | 0 | ||||||
|
12 | 0.827 | 0.200 | 11 | 2572020 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
22 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 0.700 | 0 | ||||||
|
28 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 0.700 | 0 | |||||||
|
12 | 0.807 | 0.280 | 16 | 8801859 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.882 | 0.160 | 3 | 12604194 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
27 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
26 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 |