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 | 0.925 | 0.200 | 1 | 216000442 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 1 | 215671085 | missense variant | T/C;G | snv | 0.710 | 1.000 | 1 | 2007 | 2007 | |||||
|
25 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 0.700 | 1.000 | 2 | 1998 | 2019 | |||
|
10 | 0.790 | 0.200 | 1 | 216247118 | missense variant | C/A | snv | 9.7E-04 | 1.3E-03 | 0.750 | 1.000 | 6 | 2000 | 2019 | |||
|
5 | 0.827 | 0.200 | 1 | 215891198 | intron variant | T/C | snv | 4.2E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.200 | 1 | 215728220 | frameshift variant | GT/- | delins | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.200 | 1 | 216422237 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.882 | 0.200 | 1 | 216250898 | splice region variant | C/T | snv | 4.0E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 1 | 216048538 | frameshift variant | T/- | delins | 3.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 215674580 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.200 | 1 | 216086749 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.200 | 1 | 215674595 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.200 | 1 | 215813906 | splice acceptor variant | T/C | snv | 1.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.200 | 1 | 215675337 | missense variant | G/A | snv | 3.2E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2013 | 2019 | |||
|
3 | 0.882 | 0.200 | 1 | 216196582 | stop gained | G/A | snv | 6.0E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 1 | 215743285 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.200 | 1 | 216175368 | frameshift variant | -/T | delins | 1.2E-05; 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.080 | 1 | 216000489 | stop gained | C/A;G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 1 | 215759735 | missense variant | C/A;T | snv | 4.0E-06; 5.6E-05 | 0.700 | 1.000 | 2 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 215674445 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 215648660 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 215671258 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 216418675 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 216292292 | frameshift variant | -/TC | ins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 215867170 | splice acceptor variant | C/- | delins | 0.700 | 0 |