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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
33 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.240 | 4 | 523849 | missense variant | C/T | snv | 6.7E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.160 | 17 | 47946670 | missense variant | G/A;T | snv | 4.0E-05 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.200 | 5 | 60928961 | splice acceptor variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 1.000 | 0.080 | 9 | 35794009 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
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 |