| 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 | 0.925 | 3 | 11025786 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2012 | 2018 | ||||||
|
1 | 1.000 | 3 | 11026281 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 3 | 11017342 | missense variant | G/A;C | snv | 0.800 | 0 | |||||||||
|
2 | 0.925 | 0.080 | 3 | 11025812 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 3 | 11026351 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
1 | 1.000 | 3 | 11031230 | missense variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 3 | 11033638 | splice acceptor variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 3 | 11018699 | splice donor variant | G/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 3 | 11017921 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 11017434 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 11022385 | frameshift variant | CTGGCCATCACGCTGGCCA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 11029283 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 11033672 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 11033647 | stop gained | C/A;T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 3 | 11031222 | frameshift variant | GG/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 11034651 | missense variant | G/A;C | snv | 0.700 | 0 |