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 | ||||||
|
11 | 0.752 | 0.440 | 10 | 121565500 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 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 | ||||||||
|
5 | 0.851 | 0.120 | 5 | 112839461 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.742 | 0.480 | 10 | 121515254 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 5 | 112838953 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | 1 | 45333171 | splice acceptor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins | 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 | |||||||
|
7 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 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 | ||||||
|
8 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
28 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.020 | 0.500 | 2 | 2019 | 2020 | |||
|
6 | 0.851 | 0.160 | 12 | 56088557 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
21 | 0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |