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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.360 | 16 | 53645694 | stop gained | G/A | snv | 2.0E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.360 | 16 | 53652637 | stop gained | G/A | snv | 6.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.360 | 16 | 53645895 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 4 | 15597452 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 8 | 93763874 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.360 | 4 | 15563461 | frameshift variant | TA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.360 | 8 | 93780633 | missense variant | T/C;G | snv | 8.4E-05 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.360 | 4 | 15563395 | stop gained | C/T | snv | 1.0E-04 | 1.0E-04 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.360 | 4 | 15563485 | stop gained | C/A;G;T | snv | 2.0E-05; 2.0E-05 | 0.700 | 0 | |||||||
|
22 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 0.800 | 0 | |||||||
|
2 | 0.925 | 0.280 | 8 | 93797329 | splice acceptor variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.360 | 4 | 15557361 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.360 | 4 | 15533284 | stop gained | C/T | snv | 1.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.280 | 8 | 93808957 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 8 | 93755871 | splice region variant | G/A | snv | 7.1E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.280 | 8 | 93782455 | missense variant | C/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.280 | 8 | 93782402 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.280 | 8 | 93815365 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.280 | 8 | 93808922 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.360 | 8 | 93782444 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.800 | 0 | ||||||
|
3 | 0.882 | 0.280 | 8 | 93786287 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.360 | 4 | 15599614 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.360 | 16 | 53652712 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2010 | 2011 | |||||
|
2 | 0.925 | 0.360 | 4 | 15567735 | missense variant | C/T | snv | 3.8E-05 | 5.6E-05 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.360 | 8 | 93791282 | missense variant | A/G;T | snv | 8.0E-06; 4.0E-06 | 0.800 | 1.000 | 4 | 2009 | 2017 |