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 | 2 | 47800675 | frameshift variant | CC/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 47800856 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 2 | 47801001 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 2 | 47798718 | frameshift variant | A/-;AA | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 2 | 47799614 | frameshift variant | AAAA/-;AA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 47798713 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 47799112 | frameshift variant | AGAGA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 47803553 | frameshift variant | TT/-;T;TTT | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 2 | 47791097 | missense variant | G/T | snv | 9.4E-04 | 1.5E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 2 | 47799457 | missense variant | A/G | snv | 8.0E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.240 | 2 | 47803449 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 47799616 | frameshift variant | AAGA/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 2 | 47801086 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 2 | 47806488 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 47800996 | stop gained | C/A;T | snv | 4.8E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.160 | 2 | 47803473 | missense variant | C/G;T | snv | 4.0E-06; 9.5E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 2 | 47799789 | frameshift variant | AAAG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47799491 | missense variant | C/G;T | snv | 6.2E-04 | 5.7E-04 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.160 | 2 | 47798633 | frameshift variant | -/T | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 2 | 47803506 | missense variant | C/A;G;T | snv | 9.5E-05; 7.2E-05; 1.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 47799585 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47805638 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 2 | 47801034 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47799853 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 2 | 47806300 | frameshift variant | -/T | ins | 0.700 | 0 |