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 | 0.882 | 0.160 | 20 | 46725684 | stop gained | C/G | snv | 1.4E-05 | 0.700 | 1.000 | 2 | 2008 | 2009 | ||||
|
10 | 0.790 | 0.280 | X | 108598793 | missense variant | G/A | snv | 8.7E-05 | 4.7E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.160 | 20 | 46726312 | missense variant | G/A;T | snv | 4.1E-06 | 0.800 | 1.000 | 4 | 2006 | 2014 | ||||
|
1 | 1.000 | 0.160 | 20 | 46725430 | missense variant | C/T | snv | 3.2E-05 | 9.8E-05 | 0.700 | 1.000 | 2 | 2006 | 2008 | |||
|
1 | 1.000 | 0.160 | 20 | 46725727 | missense variant | C/G;T | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.280 | 2 | 227294985 | missense variant | C/T | snv | 2.0E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.160 | 20 | 46726905 | stop gained | C/T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.160 | 20 | 46725773 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 4 | 2006 | 2014 | |||
|
1 | 1.000 | 0.160 | 20 | 46725453 | stop gained | T/A;C | snv | 8.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 20 | 46725997 | frameshift variant | G/- | del | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.160 | 20 | 46726908 | frameshift variant | G/- | delins | 0.700 | 1.000 | 3 | 2006 | 2009 | |||||
|
1 | 1.000 | 0.160 | 20 | 46726909 | missense variant | G/A | snv | 1.2E-05 | 0.800 | 1.000 | 3 | 2008 | 2014 | ||||
|
1 | 1.000 | 0.160 | 20 | 46725721 | stop gained | C/A;T | snv | 8.0E-06; 1.6E-05 | 0.700 | 1.000 | 3 | 2008 | 2009 | ||||
|
1 | 1.000 | 0.160 | 20 | 46726884 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.800 | 1.000 | 7 | 2006 | 2015 | |||
|
3 | 0.882 | 0.280 | 2 | 227007354 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.160 | 20 | 46725349 | missense variant | C/T | snv | 2.4E-05 | 4.9E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.160 | 20 | 46725728 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.800 | 1.000 | 3 | 2006 | 2013 | |||
|
1 | 1.000 | 0.160 | 20 | 46725546 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2013 | ||||
|
1 | 1.000 | 0.160 | 20 | 46725279 | missense variant | C/G | snv | 0.800 | 1.000 | 4 | 2006 | 2009 | |||||
|
1 | 1.000 | 0.160 | 20 | 46725792 | stop gained | C/A | snv | 0.700 | 1.000 | 3 | 2009 | 2013 | |||||
|
1 | 1.000 | 0.160 | 20 | 46726987 | splice donor variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 20 | 46725461 | missense variant | G/T | snv | 0.800 | 1.000 | 3 | 2008 | 2014 | |||||
|
1 | 1.000 | 0.160 | 20 | 46725764 | frameshift variant | TAAC/- | delins | 0.700 | 1.000 | 1 | 2008 | 2008 |