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 | 8 | 93782456 | missense variant | A/C | snv | 0.800 | 1.000 | 6 | 2006 | 2011 | |||||
|
1 | 1.000 | 0.280 | 8 | 93755075 | missense variant | A/G | snv | 7.0E-06 | 0.800 | 1.000 | 6 | 2006 | 2011 | ||||
|
1 | 1.000 | 0.280 | 8 | 93797372 | missense variant | T/C | snv | 0.800 | 1.000 | 6 | 2006 | 2011 | |||||
|
1 | 1.000 | 0.280 | 8 | 93808928 | missense variant | A/G | snv | 1.4E-05 | 0.800 | 1.000 | 6 | 2006 | 2011 | ||||
|
1 | 1.000 | 0.280 | 8 | 93815437 | missense variant | T/C | snv | 4.0E-06 | 0.800 | 1.000 | 6 | 2006 | 2011 | ||||
|
1 | 1.000 | 0.280 | 8 | 93780612 | missense variant | C/T | snv | 0.800 | 1.000 | 6 | 2006 | 2011 | |||||
|
1 | 1.000 | 0.280 | 8 | 93780892 | missense variant | G/T | snv | 8.0E-06 | 0.800 | 1.000 | 6 | 2006 | 2011 | ||||
|
28 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 0.800 | 1.000 | 5 | 2006 | 2010 | ||||
|
8 | 0.776 | 0.360 | 8 | 93781725 | missense variant | T/C | snv | 2.0E-05 | 4.2E-05 | 0.800 | 1.000 | 5 | 2006 | 2010 | |||
|
2 | 0.925 | 0.360 | 8 | 93786253 | missense variant | G/A | snv | 6.0E-05 | 4.2E-05 | 0.800 | 1.000 | 5 | 2006 | 2010 | |||
|
3 | 0.882 | 0.360 | 8 | 93791282 | missense variant | A/G;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2010 | ||||
|
1 | 1.000 | 0.280 | 8 | 93786256 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2010 | ||||
|
1 | 1.000 | 0.280 | 8 | 93804796 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2010 | ||||
|
1 | 1.000 | 0.280 | 8 | 93758552 | frameshift variant | AC/- | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.851 | 0.320 | 8 | 93765617 | stop gained | A/T | snv | 1.8E-04 | 2.6E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.320 | 8 | 93765648 | splice donor variant | T/G | snv | 5.6E-05 | 2.8E-05 | 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 | 8 | 93808898 | missense variant | T/C | snv | 4.0E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.280 | 8 | 93781744 | splice donor variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 8 | 93786270 | missense variant | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.320 | 8 | 93787843 | splice acceptor variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 8 | 93791280 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 8 | 93791320 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 8 | 93755776 | splice acceptor variant | A/- | del | 9.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.280 | 8 | 93803662 | frameshift variant | T/- | delins | 0.700 | 0 |