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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.851 | 0.120 | 14 | 101986552 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
40 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
36 | 0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 | 0.700 | 0 | |||||||
|
23 | 0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
34 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
33 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 0.700 | 0 | ||||||||
|
33 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
38 | 0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
23 | 0.763 | 0.280 | 9 | 85588465 | frameshift variant | G/- | del | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
11 | 0.827 | 0.240 | 1 | 23848684 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
33 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | ||||||||
|
33 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 |