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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 1 | 43338634 | missense variant | G/A;C | snv | 8.0E-06; 3.8E-04 | 0.800 | 1.000 | 10 | 2000 | 2018 | ||||
|
5 | 0.851 | 0.080 | 1 | 43337929 | splice donor variant | T/A | snv | 4.0E-04 | 1.7E-04 | 0.700 | 1.000 | 5 | 1994 | 2014 | |||
|
2 | 0.925 | 0.080 | 1 | 43338564 | frameshift variant | CT/- | del | 5.2E-05 | 4.9E-05 | 0.700 | 1.000 | 4 | 2001 | 2016 | |||
|
1 | 1.000 | 0.080 | 1 | 43352645 | missense variant | T/G | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 43338705 | frameshift variant | T/- | delins | 4.0E-05 | 4.2E-05 | 0.700 | 1.000 | 2 | 2001 | 2006 | |||
|
6 | 0.827 | 0.080 | 1 | 43338646 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-05 | 0.700 | 1.000 | 2 | 2009 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 43352303 | splice donor variant | G/- | delins | 2.1E-05 | 0.700 | 1.000 | 2 | 2007 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 43338633 | missense variant | C/T | snv | 1.2E-05 | 6.3E-05 | 0.700 | 1.000 | 2 | 2006 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 43338640 | missense variant | T/C | snv | 7.0E-06 | 0.710 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 1 | 43338146 | stop gained | C/T | snv | 3.2E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.120 | 1 | 43338136 | missense variant | G/T | snv | 3.5E-03 | 1.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 1 | 43346931 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 43339435 | stop gained | C/A;G;T | snv | 1.2E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 43340042 | missense variant | C/T | snv | 6.0E-05 | 1.3E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 43352768 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 43349267 | stop gained | G/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 1 | 43339292 | frameshift variant | T/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 43346929 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 43340096 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 43339339 | missense variant | T/C | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 43339286 | missense variant | C/A;G;T | snv | 1.2E-05; 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 43340502 | frameshift variant | C/- | delins | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 184373456 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 184372749 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |