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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 2001 | 2010 | ||||
|
23 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 3 | 2001 | 2010 | |||||
|
4 | 0.882 | 0.160 | 10 | 87965286 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.776 | 0.280 | 10 | 87952143 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 10 | 87961042 | frameshift variant | ACTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 87957933 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 87965294 | frameshift variant | TGTACTTCACAAAAACA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 87864512 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 87894047 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 87925556 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 87933217 | frameshift variant | -/TT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 87952250 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.160 | 10 | 87925530 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.240 | 10 | 87925558 | splice region variant | AGTA/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.280 | 10 | 87933162 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.200 | 10 | 87933165 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 10 | 87864539 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 10 | 87952134 | missense variant | G/T | snv | 0.700 | 0 |