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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.827 | 0.160 | 1 | 42927684 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1997 | 2015 | ||||
|
6 | 0.827 | 0.280 | 1 | 42929008 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 2001 | 2015 | |||||
|
1 | 1.000 | 1 | 42927685 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 2011 | 2016 | ||||||
|
1 | 1.000 | 1 | 42927704 | frameshift variant | T/- | delins | 0.700 | 1.000 | 5 | 2011 | 2015 | ||||||
|
2 | 0.925 | 0.040 | 1 | 42930865 | missense variant | G/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 2008 | 2013 | ||||
|
2 | 0.925 | 0.040 | 1 | 42929242 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2000 | 2016 | |||||
|
1 | 1.000 | 1 | 42930036 | splice acceptor variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2011 | 2017 | ||||||
|
6 | 0.807 | 0.360 | 1 | 42927148 | missense variant | G/A;T | snv | 2.8E-03 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
2 | 0.925 | 0.080 | 1 | 42927118 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
1 | 1.000 | 1 | 42931093 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||
|
3 | 0.882 | 0.200 | 1 | 42929918 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 1 | 42929625 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 42931205 | splice acceptor variant | -/CC | delins | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.040 | 1 | 42931047 | missense variant | G/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.360 | 1 | 42929885 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 1 | 42929211 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 42930765 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.360 | 1 | 42930766 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.120 | 1 | 42929018 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 |