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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | 2 | 1484815 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 15 | 45101228 | frameshift variant | ACGA/- | delins | 2.9E-03 | 2.6E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 20 | 59023745 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 20 | 59023906 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 20 | 59019557 | frameshift variant | G/- | del | 5.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 81092608 | splice donor variant | TG/- | delins | 1.4E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 2 | 1477221 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.120 | 2 | 113246826 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
8 | 0.776 | 0.280 | 9 | 97854108 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.120 | 2 | 113244466 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 2 | 1487841 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 2 | 1493976 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.120 | 14 | 81143695 | stop gained | G/A | snv | 1.1E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.120 | 19 | 17877840 | stop gained | C/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
10 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.120 | 14 | 81143638 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 2 | 1540594 | stop gained | G/A;T | snv | 1.2E-05; 2.0E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 20 | 58853413 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 15 | 45095881 | missense variant | G/A | snv | 5.9E-04 | 3.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 14 | 81139719 | missense variant | G/A | snv | 8.7E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.120 | 15 | 45108159 | missense variant | C/G;T | snv | 4.0E-06; 1.4E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 2 | 113218569 | synonymous variant | T/C | snv | 2.4E-03 | 2.9E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.120 | 2 | 1414421 | missense variant | G/A;T | snv | 8.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |