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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.120 | 1 | 45332445 | missense variant | C/T | snv | 8.4E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | 1 | 45333171 | splice acceptor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 1 | 45334493 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.120 | 1 | 45331558 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
10 | 0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
13 | 0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 3 | 2013 | 2017 | |||||
|
17 | 0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv | 0.820 | 1.000 | 5 | 1999 | 2009 | |||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 6 | 1999 | 2017 | |||||
|
11 | 0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv | 0.800 | 1.000 | 6 | 1999 | 2017 | |||||
|
17 | 0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 6 | 1999 | 2017 | |||||
|
23 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 7 | 1999 | 2017 |