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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.280 | 5 | 44310447 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.280 | 5 | 44388443 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
11 | 0.752 | 0.440 | 10 | 121517390 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
17 | 0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | |||||||
|
25 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
15 | 0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.440 | 10 | 121565500 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.280 | 5 | 44305072 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 5 | 44310455 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 5 | 44310500 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 5 | 44388427 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 5 | 44388451 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 5 | 44388682 | start lost | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 10 | 121487390 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 10 | 121500910 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.742 | 0.480 | 10 | 121515254 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.700 | 0 | |||||||
|
28 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | 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 | |||||||
|
1 | 1.000 | 0.280 | 10 | 121488028 | inframe deletion | TCT/- | del | 0.700 | 0 |