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 | 0.040 | 8 | 132923397 | stop gained | C/G;T | snv | 4.0E-06; 8.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 8 | 132906786 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 8 | 132882609 | stop gained | C/T | snv | 3.6E-04 | 4.0E-04 | 0.700 | 1.000 | 6 | 1999 | 2013 | |||
|
1 | 1.000 | 0.040 | 8 | 132967797 | missense variant | G/A | snv | 0.800 | 1.000 | 6 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.040 | 8 | 133022121 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 6 | 1999 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 132898809 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 8 | 133029907 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 | 0.800 | 1.000 | 6 | 1999 | 2016 | |||
|
5 | 0.851 | 0.080 | 8 | 132869781 | missense variant | G/A | snv | 7.6E-04 | 7.0E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 8 | 132869816 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 8 | 132941493 | stop gained | C/A;T | snv | 1.0E-04; 2.0E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 8 | 133017940 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.200 | 8 | 132906843 | missense variant | T/C | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 6 | 1999 | 2016 | |||
|
5 | 0.827 | 0.200 | 8 | 132971804 | missense variant | T/A | snv | 0.800 | 1.000 | 6 | 1999 | 2016 | |||||
|
4 | 0.851 | 0.160 | 8 | 133017916 | missense variant | C/A | snv | 4.4E-05 | 2.8E-05 | 0.700 | 1.000 | 6 | 1999 | 2016 | |||
|
1 | 1.000 | 0.040 | 8 | 132873226 | splice region variant | G/A | snv | 2.4E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.120 | 8 | 133022135 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 |