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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 17 | 43091477 | stop gained | C/A;G;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.080 | 17 | 43094606 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 17 | 43092434 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 17 | 43115750 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.200 | 17 | 43104928 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.200 | 17 | 43082434 | stop gained | G/A;C | snv | 2.4E-05; 3.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.200 | 17 | 43074482 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.200 | 17 | 43091638 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.200 | 17 | 43115729 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.200 | 17 | 43124094 | start lost | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.200 | 17 | 43057147 | intron variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.200 | 17 | 43074522 | splice acceptor variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.200 | 17 | 43115743 | stop gained | A/C;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.200 | 17 | 43092809 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.200 | 17 | 43057078 | stop gained | G/A;C;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.200 | 17 | 43124028 | frameshift variant | CT/-;CTCT | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.200 | 17 | 43074330 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.200 | 17 | 43091933 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.200 | 17 | 43047666 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 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 | |||||||
|
11 | 0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
16 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 0.700 | 0 |