| 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 | 0.080 | 1 | 12011512 | missense variant | T/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 12011511 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156136082 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 7 | 30628565 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 12002025 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 12002014 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 11 | 62692671 | stop gained | C/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 1 | 156115012 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156115165 | frameshift variant | -/CCGA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156130651 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156134481 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156134893 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156135253 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156135954 | frameshift variant | CG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156135966 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156136078 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156136976 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 7 | 30609643 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 7 | 30612214 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 62690831 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 11998997 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 12009693 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 12011542 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156114922 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156114989 | frameshift variant | C/- | delins | 0.700 | 0 |