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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.240 | 15 | 48415571 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.240 | 15 | 48452676 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.925 | 0.320 | 1 | 27549887 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 15 | 48425420 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.240 | 15 | 48485436 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.776 | 0.200 | 15 | 48472628 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.790 | 0.280 | 15 | 48437026 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
18 | 0.716 | 0.280 | 9 | 99138006 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
18 | 0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
22 | 0.790 | 0.160 | 18 | 10714931 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
22 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
23 | 0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
26 | 0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
36 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
44 | 0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
45 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
46 | 0.742 | 0.480 | 19 | 35718020 | frameshift variant | -/GGCGGGCGGCGGC | delins | 0.700 | 0 | ||||||||
|
52 | 0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 | 0.700 | 0 | ||||||
|
58 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 0.700 | 0 |