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 | 0.851 | 0.280 | 7 | 5978675 | frameshift variant | AAGTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 2030174 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 17 | 43067608 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 17 | 43063937 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 17 | 43093393 | stop gained | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 17 | 43124032 | stop gained | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 43057083 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 17 | 43093074 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 17 | 43092155 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 32333367 | missense variant | C/T | snv | 2.1E-04 | 1.2E-04 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 13 | 32370430 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 13 | 32380076 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.200 | 13 | 32339386 | frameshift variant | AA/-;A | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.320 | 11 | 108307985 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 16 | 23614019 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 17 | 43093010 | missense variant | G/A | snv | 1.7E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
11 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 1997 | 1998 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.720 | 1.000 | 2 | 1997 | 1998 | |||
|
15 | 0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
12 | 0.742 | 0.360 | 9 | 34649445 | missense variant | A/G | snv | 9.2E-02 | 7.4E-02 | 0.050 | 0.800 | 5 | 1998 | 2003 | |||
|
34 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 |