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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.807 | 0.320 | 11 | 71441307 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
7 | 0.925 | 18 | 55350409 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
|
3 | 1.000 | 0.160 | 18 | 2697898 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.240 | 18 | 2674018 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
20 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | |||||||
|
9 | 0.882 | 0.240 | 1 | 26795056 | missense variant | C/A;T | snv | 1.2E-04 | 0.700 | 0 | |||||||
|
8 | 0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins | 0.700 | 0 | ||||||||
|
54 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.851 | 0.160 | 10 | 75030037 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
21 | 0.851 | 0.200 | X | 20187956 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
44 | 0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
26 | 0.732 | 0.320 | 3 | 41227287 | protein altering variant | CCACAAGCAG/T | delins | 0.700 | 0 | ||||||||
|
16 | 0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
18 | 0.807 | 0.320 | 19 | 13025433 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
22 | 0.776 | 0.280 | 7 | 66633410 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
27 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.080 | 19 | 6213787 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
58 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
22 | 0.776 | 0.280 | 7 | 66638394 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 0 |