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 | 0.080 | 8 | 19955930 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 19951916 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 19951783 | stop gained | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 19960988 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 19951791 | stop gained | G/A | snv | 4.0E-06 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 8 | 19951819 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 8 | 19956052 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 19955994 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 8 | 19951811 | missense variant | G/A | snv | 1.7E-04 | 7.0E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 8 | 19955862 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 19948341 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 19951768 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 8 | 19954320 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 19955927 | missense variant | G/A;C | snv | 6.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 19954200 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 8 | 19954131 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 19954236 | missense variant | A/C | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 19939529 | splice donor variant | G/C;T | snv | 8.7E-06; 4.4E-06; 4.4E-06 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.120 | 8 | 19955993 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | 8 | 19960948 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 19954240 | missense variant | T/C | snv | 1.6E-05 | 4.2E-05 | 0.800 | 1.000 | 29 | 1990 | 2016 | |||
|
16 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.860 | 0.963 | 27 | 1990 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 19955876 | missense variant | T/A | snv | 0.810 | 1.000 | 22 | 1990 | 2012 | |||||
|
9 | 0.807 | 0.160 | 8 | 19954279 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.810 | 1.000 | 22 | 1990 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 19955874 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.810 | 1.000 | 22 | 1990 | 2017 |