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 | 16 | 9938314 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 16 | 10180410 | start lost | A/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 16 | 9764715 | stop gained | G/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 16 | 9849963 | splice acceptor variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 16 | 9822391 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 16 | 9768993 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 16 | 9891000 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 16 | 9840781 | missense variant | A/G | snv | 1.5E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 16 | 9822378 | missense variant | A/C | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 16 | 9798442 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 16 | 9768997 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 16 | 9763169 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 16 | 9798269 | splice donor variant | GGTCTTACCATCACCCACA/- | del | 0.700 | 0 |