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 | 0.280 | 10 | 95633026 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 10 | 95643118 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 10 | 95628405 | missense variant | G/A | snv | 0.11 | 0.10 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.280 | 10 | 95606856 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.280 | 10 | 95610272 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 10 | 95621225 | missense variant | G/A | snv | 8.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.280 | 10 | 95606805 | missense variant | T/C;G | snv | 8.4E-05; 8.0E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.280 | 10 | 95613741 | splice donor variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
15 | 0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 10 | 95643044 | missense variant | C/A;T | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2000 | 2014 | ||||
|
1 | 1.000 | 0.280 | 10 | 95606800 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 2000 | 2014 | |||||
|
24 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2015 | 2016 |