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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.200 | 17 | 61784403 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61857167 | stop gained | G/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 61781006 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61859794 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61847214 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61686136 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 61799278 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 61801454 | stop gained | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 61686152 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 61693488 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 17 | 61743012 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61784425 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 61793656 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 17 | 61859862 | missense variant | G/C;T | snv | 2.5E-04 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.280 | 17 | 61859808 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 61793687 | stop gained | A/C;G | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.280 | 17 | 61859868 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 17 | 61849173 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 61686166 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61743015 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 17 | 61849188 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 61683837 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 17 | 61776557 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 17 | 61715964 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 61715996 | stop gained | C/T | snv | 0.700 | 0 |