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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | 3 | 121808978 | frameshift variant | AA/- | delins | 1.0E-04 | 1.4E-04 | 0.700 | 1.000 | 3 | 2005 | 2013 | |||
|
1 | 1.000 | 0.200 | 3 | 121808955 | frameshift variant | GAGA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 3 | 121781772 | stop gained | G/A | snv | 6.8E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 3 | 121790133 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 3 | 121797166 | frameshift variant | GTCT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.200 | 3 | 121772659 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 3 | 121790166 | stop gained | C/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.200 | 3 | 121772605 | frameshift variant | TG/- | delins | 8.0E-05 | 7.0E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 3 | 121772600 | frameshift variant | -/CT | delins | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 3 | 121795542 | frameshift variant | -/AGCA | delins | 5.6E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 3 | 121826111 | frameshift variant | A/- | del | 0.700 | 0 |