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 | 0.120 | 4 | 127920794 | missense variant | G/A;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 1.000 | 7 | 2007 | 2012 | ||||
|
2 | 0.925 | 0.120 | 4 | 127930800 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.800 | 1.000 | 7 | 2007 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 127943775 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 0.800 | 1.000 | 7 | 2007 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 127942160 | splice acceptor variant | T/A | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 4 | 127930752 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 127921588 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 127930787 | stop gained | A/C;G | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 127943829 | missense variant | T/C;G | snv | 4.0E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 127921926 | frameshift variant | C/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 127921876 | frameshift variant | G/- | delins | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 127957591 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 127942073 | stop gained | A/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 4 | 127921860 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 127932981 | frameshift variant | -/A | ins | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 127957501 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 127942119 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 4 | 127921639 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.800 | 1.000 | 7 | 2007 | 2012 | |||
|
2 | 0.925 | 0.120 | 4 | 127921733 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 4 | 127920779 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 7 | 2007 | 2012 | |||
|
1 | 1.000 | 0.120 | 4 | 127920793 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 2007 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 127920826 | missense variant | A/G | snv | 1.1E-04 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 4 | 127920743 | stop gained | G/A | snv | 2.0E-05 | 2.8E-05 | 0.700 | 1.000 | 3 | 2009 | 2018 | |||
|
2 | 0.925 | 0.120 | 4 | 127938781 | splice donor variant | A/T | snv | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 5 | 2007 | 2015 |