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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.851 | 0.120 | 14 | 101986552 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | X | 53194576 | frameshift variant | AGAGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 22 | 42212423 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||||
|
3 | 1.000 | 22 | 42213082 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 22 | 42213599 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 10 | 69380082 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
5 | 0.925 | 0.080 | 22 | 42179633 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 22 | 42210520 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 22 | 42210564 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||||
|
1 | 22 | 42211819 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
1 | 22 | 42213151 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 22 | 42213217 | frameshift variant | CA/- | del | 0.700 | 0 | ||||||||||
|
1 | 22 | 42213346 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 22 | 42214373 | frameshift variant | CT/- | del | 0.700 | 0 | ||||||||||
|
1 | 22 | 42214684 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||||
|
5 | 1.000 | 10 | 74670258 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 22 | 42214609 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 22 | 42214941 | frameshift variant | -/G | delins | 0.700 | 0 |