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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.827 | 0.120 | 11 | 103220720 | missense variant | A/G | snv | 2.4E-04 | 2.6E-04 | 0.700 | 1.000 | 4 | 2009 | 2018 | |||
|
2 | 0.925 | 0.120 | 11 | 103117852 | missense variant | C/T | snv | 3.2E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2012 | 2018 | |||
|
13 | 0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 | 0.700 | 1.000 | 2 | 2011 | 2014 | |||
|
2 | 0.925 | 0.200 | 2 | 165898769 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 11 | 103307833 | splice donor variant | T/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.240 | 17 | 6620832 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 103179234 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.120 | 11 | 103257719 | stop gained | C/T | snv | 6.8E-05 | 1.4E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.240 | 17 | 6623016 | stop gained | G/A;C | snv | 1.6E-05; 7.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.240 | 17 | 6623043 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.120 | 11 | 103129005 | splice region variant | G/A | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 39274959 | splice donor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 103199400 | missense variant | T/C | snv | 8.1E-06 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 4 | 39224887 | missense variant | G/C | snv | 8.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103236479 | frameshift variant | AAAAG/- | delins | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 103121029 | frameshift variant | TTAA/- | delins | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 225411351 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
8 | 1.000 | 0.120 | 11 | 103125293 | stop gained | C/T | snv | 4.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103135524 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 11 | 103192150 | missense variant | C/A;T | snv | 5.1E-06; 5.1E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 11 | 103185032 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 3 | 160356069 | missense variant | C/G;T | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 103177605 | frameshift variant | T/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 15 | 58887316 | missense variant | G/C;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 165924668 | missense variant | G/T | snv | 7.0E-06 | 0.700 | 0 |