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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156138660 | missense variant | G/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
3 | 0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 156136925 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156137237 | splice region variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156134509 | inframe deletion | GAA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 1 | 156134976 | splice donor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 1 | 156134829 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
16 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 156115021 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156137017 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 1 | 156135923 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 0.925 | 0.200 | 1 | 156136981 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 0.925 | 0.120 | 1 | 156134942 | stop gained | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 156135971 | missense variant | G/A | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 156114991 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 1 | 156137183 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 156115052 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156136393 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156115066 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156115045 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.827 | 0.120 | 1 | 156136036 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.851 | 0.200 | 1 | 156130679 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.790 | 0.280 | 1 | 156130658 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 |