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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.160 | 10 | 180034 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 14 | 102348559 | stop lost | A/C | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.080 | 2 | 165388782 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.040 | X | 136016706 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
14 | 0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.400 | 12 | 49185197 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
19 | 0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.280 | 8 | 91078597 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 5 | 88883309 | 5 prime UTR variant | GAGGAGGAGGAAGA/- | del | 0.700 | 0 | ||||||||
|
53 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | 10 | 87961096 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 15 | 52340235 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 10 | 32019912 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 3 | 6861849 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.040 | 3 | 7578878 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.040 | 3 | 7578930 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.160 | X | 19353124 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
13 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 1 | 244856757 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
34 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.240 | 10 | 122506817 | stop gained | C/T | snv | 8.0E-06 | 3.5E-05 | 0.700 | 0 | ||||||
|
11 | 0.882 | 0.160 | 3 | 49099606 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.040 | 20 | 63439610 | inframe deletion | AAG/- | delins | 0.700 | 0 |