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 | 0.925 | 0.080 | 6 | 49457789 | missense variant | T/A | snv | 6.8E-05 | 2.8E-05 | 0.720 | 1.000 | 4 | 2001 | 2009 | |||
|
2 | 1.000 | 0.080 | 6 | 49448861 | stop gained | G/A | snv | 6.8E-05 | 2.8E-05 | 0.700 | 1.000 | 6 | 2002 | 2016 | |||
|
6 | 1.000 | 0.080 | 4 | 145639572 | stop gained | C/T | snv | 1.6E-04 | 1.7E-04 | 0.700 | 1.000 | 5 | 2004 | 2017 | |||
|
3 | 0.925 | 0.080 | 6 | 49459144 | missense variant | C/T | snv | 2.0E-05; 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 5 | 2001 | 2010 | |||
|
1 | 4 | 145651070 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2004 | 2015 | ||||||
|
1 | 6 | 49457690 | splice donor variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2016 | ||||||
|
2 | 1.000 | 0.080 | 12 | 109557081 | stop gained | G/A | snv | 3.2E-05 | 3.5E-05 | 0.700 | 1.000 | 3 | 2006 | 2012 | |||
|
2 | 1.000 | 0.080 | 12 | 109568864 | splice acceptor variant | C/A | snv | 4.0E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2002 | 2016 | |||
|
2 | 1.000 | 0.080 | 6 | 49453643 | stop gained | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 2005 | 2015 | ||||
|
2 | 1.000 | 0.080 | 6 | 49431784 | frameshift variant | CGGC/TTCCA | delins | 0.700 | 1.000 | 3 | 2000 | 2006 | |||||
|
3 | 0.925 | 0.080 | 6 | 49459189 | missense variant | C/T | snv | 6.4E-05 | 4.2E-05 | 0.700 | 1.000 | 2 | 1991 | 2016 | |||
|
3 | 0.925 | 0.080 | 6 | 49431831 | missense variant | C/A | snv | 4.8E-05 | 2.1E-04 | 0.700 | 1.000 | 2 | 2006 | 2016 | |||
|
2 | 1.000 | 0.080 | 12 | 109561068 | missense variant | G/A | snv | 1.4E-04 | 1.5E-04 | 0.700 | 1.000 | 2 | 2002 | 2006 | |||
|
4 | 0.925 | 0.120 | 6 | 49459376 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 2 | 2006 | 2016 | |||
|
2 | 1.000 | 0.080 | 6 | 49453645 | frameshift variant | -/T | delins | 8.0E-06; 1.6E-05 | 0.700 | 1.000 | 2 | 2005 | 2006 | ||||
|
2 | 1.000 | 0.080 | 6 | 49451518 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2014 | 2015 | |||
|
2 | 1.000 | 0.080 | 12 | 109561040 | missense variant | C/T | snv | 8.1E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2010 | 2015 | |||
|
2 | 1.000 | 0.080 | 4 | 145639203 | stop gained | C/T | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2004 | 2012 | |||
|
2 | 1.000 | 0.080 | 4 | 145646013 | frameshift variant | CTGA/- | delins | 0.700 | 1.000 | 2 | 2004 | 2012 | |||||
|
2 | 1.000 | 0.080 | 6 | 49453686 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2012 | ||||
|
2 | 1.000 | 0.080 | 6 | 49457689 | splice donor variant | A/T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2011 | ||||
|
1 | 6 | 49453583 | splice donor variant | A/T | snv | 4.0E-06; 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 6 | 49456141 | stop gained | C/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.080 | 6 | 49447699 | stop gained | G/A | snv | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 1.000 | 0.080 | 6 | 49435500 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 |