| 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 | 1 | 155480700 | missense variant | C/A | snv | 0.800 | 1.000 | 4 | 2012 | 2017 | ||||||
|
1 | 1.000 | 1 | 155342040 | missense variant | C/G | snv | 0.800 | 1.000 | 4 | 2012 | 2017 | ||||||
|
1 | 1.000 | 1 | 155479044 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2012 | 2017 | |||||
|
1 | 1.000 | 1 | 155347690 | frameshift variant | -/CCTTG | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 155357741 | frameshift variant | AC/TGAGAA | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 155370889 | stop gained | C/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 155479165 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 155480447 | frameshift variant | TT/A | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 155479203 | frameshift variant | CTTT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 155378375 | missense variant | C/T | snv | 5.6E-05 | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 155354514 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 155438830 | missense variant | G/A;C | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 1 | 155337700 | frameshift variant | -/T | delins | 4.0E-05 | 2.8E-05 | 0.700 | 0 |