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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 16 | 89746848 | missense variant | T/C;G | snv | 8.7E-05 | 0.800 | 1.000 | 17 | 1997 | 2015 | ||||
|
2 | 0.925 | 0.120 | 16 | 89749806 | missense variant | G/A;T | snv | 2.0E-05; 1.2E-05 | 0.800 | 1.000 | 17 | 1997 | 2017 | ||||
|
1 | 1.000 | 0.120 | 16 | 89740024 | missense variant | A/G | snv | 0.700 | 1.000 | 11 | 1997 | 2009 | |||||
|
1 | 1.000 | 0.120 | 16 | 89749805 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2008 | ||||
|
1 | 1.000 | 0.120 | 16 | 89739220 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 1997 | 2008 | |||||
|
1 | 1.000 | 0.120 | 16 | 89739225 | missense variant | C/A | snv | 0.700 | 1.000 | 9 | 1997 | 2008 | |||||
|
1 | 1.000 | 0.120 | 16 | 89740848 | missense variant | A/G | snv | 0.700 | 1.000 | 9 | 1997 | 2008 | |||||
|
1 | 1.000 | 0.120 | 16 | 89767215 | missense variant | A/C;T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2008 | ||||
|
1 | 1.000 | 0.120 | 16 | 89816592 | missense variant | G/A;C | snv | 5.0E-03 | 0.700 | 1.000 | 9 | 1997 | 2008 | ||||
|
2 | 0.925 | 0.120 | 16 | 89761950 | missense variant | G/A;T | snv | 2.4E-05; 4.0E-06 | 0.700 | 1.000 | 7 | 2005 | 2016 | ||||
|
2 | 0.925 | 0.120 | 16 | 89805275 | splice region variant | C/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 7 | 1999 | 2018 | ||||
|
2 | 0.925 | 0.120 | 16 | 89761949 | missense variant | C/A;T | snv | 5.2E-05 | 0.700 | 1.000 | 6 | 2000 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 89739175 | frameshift variant | TG/- | delins | 0.700 | 1.000 | 5 | 2011 | 2016 | |||||
|
1 | 1.000 | 0.120 | 16 | 89770179 | missense variant | A/G | snv | 9.5E-06 | 0.700 | 1.000 | 4 | 2005 | 2012 | ||||
|
2 | 0.925 | 0.120 | 16 | 89767185 | stop gained | G/A;C | snv | 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 89771778 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2014 | ||||
|
2 | 0.925 | 0.120 | 16 | 89816614 | start lost | A/G;T | snv | 4.1E-05; 8.3E-06 | 0.700 | 1.000 | 4 | 2005 | 2014 | ||||
|
1 | 1.000 | 0.120 | 16 | 89749730 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2005 | 2014 | |||||
|
1 | 1.000 | 0.120 | 16 | 89765068 | splice acceptor variant | T/A | snv | 0.700 | 1.000 | 3 | 1999 | 2013 | |||||
|
1 | 1.000 | 0.120 | 16 | 89815903 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.120 | 16 | 89748658 | splice donor variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2013 | 2016 | ||||
|
1 | 1.000 | 0.120 | 16 | 89738710 | splice acceptor variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.120 | 16 | 89758688 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2008 | 2013 | |||||
|
1 | 1.000 | 0.120 | 16 | 89767213 | stop gained | G/A;C;T | snv | 4.0E-06; 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 16 | 89758702 | splice acceptor variant | CTAGAACAGCAAACACTGC/- | delins | 0.700 | 1.000 | 2 | 1997 | 2008 |