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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.040 | 15 | 75411651 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
87 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
12 | 0.790 | 0.320 | 16 | 8811660 | missense variant | T/C | snv | 2.9E-04 | 4.1E-04 | 0.700 | 0 | ||||||
|
22 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 0.700 | 0 | ||||||
|
12 | 0.807 | 0.280 | 16 | 8801859 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.776 | 0.360 | 16 | 8811088 | stop gained | C/A;T | snv | 4.4E-05; 5.4E-06 | 0.700 | 0 | |||||||
|
58 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
36 | 0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 | 0.700 | 0 | |||||||
|
31 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 19 | 41986177 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
|
21 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.160 | X | 69616488 | stop gained | C/A | snv | 0.700 | 0 |