| 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 | 3 | 184354556 | missense variant | G/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 3 | 184354113 | stop gained | C/T | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 3 | 184357979 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||||
|
1 | 1.000 | 3 | 184358228 | inframe deletion | TGAGGA/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 3 | 184357431 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 3 | 184354548 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 3 | 184355751 | frameshift variant | G/ATGAGCAGT | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 3 | 184355721 | frameshift variant | A/- | del | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 3 | 184352042 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 184357063 | missense variant | C/G | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 3 | 184354643 | missense variant | C/T | snv | 4.0E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 184358742 | missense variant | C/G | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 184357240 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 184355396 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 184354658 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 184354632 | frameshift variant | AC/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 184353321 | stop gained | T/A | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 |