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 | 3 | 38620919 | stop gained | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 7 | 150951496 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 21 | 34449393 | missense variant | T/A;C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 11 | 2445412 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 3 | 38581182 | missense variant | C/A;T | snv | 4.2E-06; 8.4E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 3 | 38560221 | stop gained | C/A;T | snv | 3.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | 11 | 2768851 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 2570685 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 9 | 2000 | 2018 | ||||
|
2 | 0.925 | 0.120 | 11 | 2570707 | missense variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 11 | 2662080 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.120 | 7 | 150952696 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2013 | ||||
|
2 | 0.925 | 0.120 | 11 | 118141265 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 11 | 2588804 | missense variant | C/A;G;T | snv | 7.2E-05; 7.5E-03; 2.0E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.120 | 3 | 38633058 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 7 | 150952723 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 1.000 | 0.120 | 5 | 102419940 | missense variant | G/A | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 3 | 38560146 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 3 | 38620972 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 150948981 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 15 | 2000 | 2016 | |||
|
3 | 0.882 | 0.120 | 11 | 2571394 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 11 | 1999 | 2014 | ||||
|
3 | 0.882 | 0.120 | 7 | 150950312 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 9 | 2000 | 2018 | ||||
|
3 | 0.882 | 0.120 | 11 | 2585275 | missense variant | C/A;T | snv | 0.700 | 1.000 | 9 | 1997 | 2014 | |||||
|
3 | 0.882 | 0.120 | 11 | 2570734 | frameshift variant | G/- | delins | 0.700 | 1.000 | 2 | 2002 | 2009 | |||||
|
3 | 0.882 | 0.120 | 11 | 2572104 | missense variant | C/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.882 | 0.120 | 7 | 150951552 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |