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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
21 | 0.851 | 0.120 | 14 | 101986552 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.925 | 0.120 | 9 | 134798410 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
19 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 15 | 48534099 | frameshift variant | CATT/- | delins | 0.700 | 0 | ||||||||
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
21 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
53 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 15 | 48425420 | missense variant | A/G | 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 | ||||||||
|
10 | 0.790 | 0.160 | 15 | 48513591 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
23 | 0.807 | 0.280 | 12 | 112486482 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
36 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
12 | 0.790 | 0.280 | 15 | 48437026 | missense variant | T/C | 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 | |||||||
|
24 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 0.700 | 0 | |||||||
|
14 | 0.882 | 0.080 | 7 | 44108060 | stop gained | -/A | delins | 1.3E-05 | 0.700 | 0 | |||||||
|
4 | 1.000 | 2 | 189085204 | missense variant | C/A | snv | 0.700 | 0 | |||||||||
|
59 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 9 | 134834982 | inframe deletion | ACGCCGAGG/- | delins | 0.700 | 0 | ||||||||||
|
10 | 0.807 | 0.240 | 15 | 48485436 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | 15 | 48488433 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 17 | 50188569 | frameshift variant | G/- | delins | 0.700 | 0 |