| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 20 | 10645245 | frameshift variant | ACTG/- | delins | 0.700 | 1.000 | 4 | 1997 | 2005 | |||||
|
1 | 1.000 | 0.120 | 20 | 10641147 | stop gained | -/AAGGCTC | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 1 | 119967555 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 10640813 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 119968224 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 119968161 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 119968194 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 119917763 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 119967448 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 119949039 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 119917685 | stop gained | G/A;C;T | snv | 5.2E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.200 | 1 | 156135274 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
1 | 1.000 | 0.120 | 20 | 10639738 | stop gained | A/C;G | snv | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 20 | 10641566 | missense variant | C/A;T | snv | 1.6E-05; 1.9E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 8 | 103885482 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.200 | 20 | 10652533 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.807 | 0.440 | 6 | 29608616 | missense variant | A/C;G | snv | 4.1E-06; 0.18 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
8 | 0.807 | 0.320 | 11 | 113410675 | 3 prime UTR variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2010 | 2010 |