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 | 0.120 | 16 | 1773083 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.360 | 2 | 218661153 | stop gained | C/T | snv | 1.7E-04 | 2.9E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 68036321 | start lost | G/A;C | snv | 3.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 133352493 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 133352143 | splice acceptor variant | C/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 133356415 | frameshift variant | -/GCAGCCC | delins | 0.700 | 0 | ||||||||
|
15 | 0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 5 | 53646231 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 53683163 | frameshift variant | CC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 133352134 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 133352565 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 9 | 133353760 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | MT | 4681 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.360 | 2 | 218661219 | missense variant | A/G | snv | 4.7E-04 | 4.1E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 68033147 | missense variant | C/T | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 11 | 126275000 | frameshift variant | -/AGTG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 10 | 133373332 | start lost | A/C;G | snv | 1.0E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 10 | 133373329 | missense variant | G/A;C | snv | 1.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 8 | 95048461 | missense variant | G/A;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 68033254 | missense variant | A/G | snv | 2.1E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 1.000 | 0.120 | 9 | 133352060 | splice donor variant | C/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 5 | 251100 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 15 | 89330241 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
12 | 0.742 | 0.320 | 15 | 89321792 | missense variant | C/T | snv | 1.5E-04 | 2.7E-04 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 16 | 1772798 | splice donor variant | C/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 1986 | 1986 |