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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.080 | 8 | 42339015 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 1 | 45331530 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 45331502 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 2 | 201205929 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 2 | 201187798 | missense variant | T/C | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 5 | 132489457 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 5 | 112838793 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 17 | 7673773 | missense variant | G/A;C;T | snv | 7.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 1 | 45331512 | frameshift variant | -/TC | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 5 | 112838953 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 12 | 56088138 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 1 | 45332445 | missense variant | C/T | snv | 8.4E-05 | 8.4E-05 | 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 | ||||||
|
6 | 0.851 | 0.160 | 12 | 56088557 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 5 | 112839461 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 0.700 | 0 |