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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||
|
2 | 0.925 | 0.080 | 11 | 108281855 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 11 | 108234866 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 11 | 108349930 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.120 | 11 | 108283370 | intron variant | G/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.807 | 0.160 | 11 | 108354934 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.807 | 0.160 | 11 | 108272455 | intron variant | C/A;T | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.280 | 11 | 108249082 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.280 | 11 | 108250907 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.280 | 11 | 108284414 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.280 | 11 | 108325352 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.280 | 11 | 108317446 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.280 | 11 | 108325416 | missense variant | C/A;T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.280 | 11 | 108251026 | frameshift variant | GA/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.280 | 11 | 108289737 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.360 | 11 | 108253846 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 11 | 108327759 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.280 | 11 | 108254013 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 11 | 108227594 | splice acceptor variant | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.280 | 11 | 108293436 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.280 | 11 | 108353805 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.280 | 11 | 108250834 | stop gained | C/A;G;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.360 | 11 | 108365208 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.280 | 11 | 108316015 | stop gained | C/A;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.280 | 11 | 108317374 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 0 |