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 | 14 | 21408756 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 21393692 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 21431459 | stop gained | G/A;C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 21400605 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 14 | 21400267 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 21402494 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 21408477 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 21403019 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 21402010 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 21409898 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 14 | 21392760 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 14 | 21415880 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 14 | 21409985 | missense variant | C/G;T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 14 | 21393500 | stop gained | C/A;T | snv | 0.700 | 1.000 | 4 | 2012 | 2016 | ||||||
|
2 | 1.000 | 14 | 21431297 | frameshift variant | G/- | del | 0.700 | 0 | |||||||||
|
6 | 0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins | 0.700 | 1.000 | 4 | 2012 | 2016 |