| 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 | 3 | 130963981 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 2000 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 130975387 | missense variant | G/T | snv | 0.800 | 1.000 | 5 | 2000 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 130980591 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 2000 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 130979416 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 2000 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 130963997 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2000 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 130996111 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2000 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 130997732 | frameshift variant | TTGT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 130969385 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 130956114 | frameshift variant | -/CCTC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 130963970 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 130998362 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 130959289 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |