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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.160 | X | 83509274 | missense variant | T/G | snv | 0.800 | 1.000 | 5 | 1995 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 83509324 | missense variant | A/G | snv | 0.800 | 1.000 | 5 | 1995 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 83509314 | missense variant | A/T | snv | 0.800 | 1.000 | 5 | 1995 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 83509291 | missense variant | C/G;T | snv | 0.800 | 1.000 | 5 | 1995 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 83509259 | missense variant | C/T | snv | 0.800 | 1.000 | 5 | 1995 | 2014 | |||||
|
1 | 1.000 | 0.160 | X | 83509177 | frameshift variant | AT/- | del | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.700 | 0 | ||||||
|
10 | 0.776 | 0.280 | 13 | 20189443 | stop gained | C/A;T | snv | 1.3E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.742 | 0.280 | 13 | 20189548 | missense variant | C/A;G | snv | 5.1E-04 | 0.700 | 0 | |||||||
|
9 | 0.776 | 0.280 | 13 | 20189451 | stop gained | C/G;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
11 | 0.742 | 0.240 | 13 | 20223450 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | X | 83508928 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.763 | 0.280 | 13 | 20189581 | start lost | T/A;C | snv | 3.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.280 | 13 | 20188965 | missense variant | T/C | snv | 9.6E-05 | 1.8E-04 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.280 | 13 | 20189299 | missense variant | C/T | snv | 4.8E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.160 | X | 83508494 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 83508969 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 83508570 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | X | 83509299 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 83509219 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.400 | 13 | 20189488 | missense variant | G/A;T | snv | 3.2E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | X | 83509272 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 83509381 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
18 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 0.700 | 0 | |||||||
|
8 | 0.776 | 0.280 | 13 | 20189203 | missense variant | G/A;C | snv | 0.700 | 0 |