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 | 0.160 | 5 | 60902458 | frameshift variant | -/A | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 5 | 60899693 | stop gained | -/TCTCA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 60944930 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 5 | 60902454 | missense variant | A/G | snv | 0.700 | 1.000 | 3 | 2004 | 2010 | |||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.160 | 5 | 60918266 | frameshift variant | ATGTA/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 60891002 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 60899666 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 60944972 | stop gained | C/A | snv | 7.6E-05 | 4.9E-05 | 0.710 | 1.000 | 2 | 2004 | 2010 | |||
|
1 | 1.000 | 0.160 | 5 | 60898275 | splice donor variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 5 | 60902477 | missense variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2004 | 2010 | |||||
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 60899728 | splice acceptor variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 2 | 2006 | 2016 | ||||
|
23 | 0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.160 | 5 | 60902446 | missense variant | C/G | snv | 6.4E-05 | 0.710 | 1.000 | 3 | 2004 | 2010 | ||||
|
1 | 1.000 | 0.160 | 5 | 60918264 | splice donor variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2015 | ||||
|
5 | 0.925 | 0.160 | 5 | 60887521 | splice acceptor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 60904795 | missense variant | C/T | snv | 7.1E-06 | 0.700 | 1.000 | 3 | 2004 | 2010 | ||||
|
1 | 1.000 | 0.160 | 5 | 60902509 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.160 | 5 | 60928863 | splice donor variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 5 | 60887439 | splice donor variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.280 | 5 | 60898350 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |