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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
35 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.710 | 1.000 | 0 | 2003 | 2003 | |||||
|
10 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
16 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 1 | 21554124 | frameshift variant | AACT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 7 | 94423102 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 0.925 | 0.080 | 12 | 109788483 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 12 | 47980597 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.882 | 0.080 | 12 | 109792407 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.790 | 0.240 | 12 | 109792396 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 12 | 109798768 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 109788462 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 109798775 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.160 | 12 | 109784378 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
18 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | |||||||
|
15 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
38 | 0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
38 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 11 | 103257719 | stop gained | C/T | snv | 6.8E-05 | 1.4E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 12 | 109784379 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 12 | 109800639 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 12 | 109784385 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 109792671 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 11 | 6633485 | missense variant | C/G;T | snv | 1.1E-03 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 12 | 109808308 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 12 | 109793560 | missense variant | G/C;T | snv | 4.0E-06 | 0.700 | 0 |