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 | 0.882 | 0.120 | 11 | 103116677 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 11 | 103122879 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.200 | 11 | 103135949 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 103241546 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 103155439 | missense variant | C/A | snv | 1.6E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 103253341 | missense variant | C/A;T | snv | 3.6E-05; 3.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 11 | 103253384 | missense variant | C/T | snv | 3.6E-05; 8.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 103479158 | missense variant | A/G | snv | 2.8E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
9 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103188633 | missense variant | G/A;C;T | snv | 8.2E-06; 8.2E-06; 4.1E-06 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.120 | 11 | 103184880 | intron variant | G/A | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103191520 | stop gained | C/T | snv | 2.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 103177664 | missense variant | G/A | snv | 1.6E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 103257731 | stop gained | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 11 | 103192219 | missense variant | G/A;C | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103170226 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 103179151 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103173242 | stop gained | C/A;T | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103154501 | frameshift variant | G/- | del | 2.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103199333 | missense variant | G/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 103304608 | missense variant | A/G | snv | 2.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 103286280 | frameshift variant | C/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 103435986 | missense variant | C/A;G;T | snv | 4.0E-06; 8.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103173307 | splice donor variant | T/C | snv | 1.1E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
9 | 0.882 | 0.120 | 11 | 103287559 | synonymous variant | G/A | snv | 1.2E-05 | 0.700 | 0 |