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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 4 | 127687772 | missense variant | G/A | snv | 2.6E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
4 | 1.000 | 0.080 | 9 | 35805944 | frameshift variant | GTGGTCCTTTC/- | del | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.080 | 9 | 35794009 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 209918616 | missense variant | C/T | snv | 3.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.160 | 2 | 209959707 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 209820379 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 209967586 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 1 | 113898755 | frameshift variant | GT/- | delins | 1.4E-04 | 1.5E-04 | 0.700 | 1.000 | 3 | 2011 | 2012 | ||||
|
5 | 1.000 | 9 | 131199023 | intron variant | T/- | delins | 0.700 | 0 | |||||||||
|
5 | 0.925 | 0.160 | 5 | 60887521 | splice acceptor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 17 | 47946670 | missense variant | G/A;T | snv | 4.0E-05 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.200 | 5 | 60928961 | splice acceptor variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
7 | 0.925 | 0.120 | 19 | 7527961 | splice donor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.120 | 19 | 7526579 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.240 | 4 | 523849 | missense variant | C/T | snv | 6.7E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
8 | 0.807 | 0.280 | 14 | 60648629 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.400 | 6 | 157207241 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.882 | 0.080 | 1 | 1806509 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.827 | 0.160 | 9 | 26913948 | splice acceptor variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
13 | 0.925 | 0.160 | 5 | 37048547 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
18 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 0.700 | 0 |