| 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 | 7 | 66994286 | stop gained | TA/AG | mnv | 0.710 | 1.000 | 15 | 2003 | 2018 | ||||||
|
3 | 0.882 | 0.040 | 7 | 66994211 | splice donor variant | C/G | snv | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 5 | 2003 | 2014 | |||
|
9 | 0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 | 0.700 | 1.000 | 4 | 2003 | 2013 | ||||
|
1 | 1.000 | 7 | 66995298 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 66993376 | frameshift variant | CTTT/- | delins | 1.4E-05 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 7 | 66993299 | missense variant | C/G | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 7 | 66991136 | splice donor variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 7 | 66988472 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 0 | ||||||||
|
7 | 0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 15 | 82151809 | missense variant | A/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 7 | 66993248 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
20 | 0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 15 | 82130452 | missense variant | C/T | snv | 2.8E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 |