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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
44 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.280 | 14 | 60648629 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 209918616 | missense variant | C/T | snv | 3.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.160 | 2 | 209959707 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 209820379 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 209967586 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.400 | 6 | 157207241 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
56 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 5 | 60887521 | splice acceptor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 1 | 113898755 | frameshift variant | GT/- | delins | 1.4E-04 | 1.5E-04 | 0.700 | 1.000 | 3 | 2011 | 2012 | ||||
|
9 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
58 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.882 | 0.080 | 1 | 1806509 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |