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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.200 | 5 | 156759301 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.200 | 5 | 156344488 | splice acceptor variant | G/A;T | snv | 0.700 | 1.000 | 4 | 1996 | 2008 | |||||
|
2 | 0.925 | 0.200 | 5 | 156595042 | stop gained | C/G;T | snv | 4.1E-06; 8.1E-06 | 0.700 | 1.000 | 2 | 1997 | 2009 | ||||
|
2 | 0.925 | 0.200 | 5 | 156757668 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.200 | 5 | 156344574 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 5 | 156344678 | splice donor variant | G/A | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 5 | 156344556 | frameshift variant | -/TGGG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 5 | 156757620 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 5 | 156757705 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 5 | 156594940 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 5 | 156344554 | stop gained | C/A;T | snv | 1.2E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.200 | 5 | 156508703 | splice donor variant | G/A | snv | 0.700 | 0 |