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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.280 | 11 | 112086910 | start lost | G/A;C | snv | 0.700 | 1.000 | 11 | 2001 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 17028721 | missense variant | C/T | snv | 0.800 | 1.000 | 10 | 2001 | 2014 | |||||
|
5 | 0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv | 0.700 | 1.000 | 10 | 1992 | 2013 | |||||
|
2 | 1.000 | 0.040 | 1 | 17044767 | missense variant | A/G;T | snv | 0.700 | 1.000 | 10 | 2001 | 2014 | |||||
|
6 | 0.827 | 0.240 | 11 | 112094831 | missense variant | A/G | snv | 0.700 | 1.000 | 9 | 2001 | 2016 | |||||
|
5 | 0.882 | 0.080 | 1 | 17054019 | start lost | T/A | snv | 0.700 | 1.000 | 9 | 2003 | 2013 | |||||
|
5 | 0.882 | 0.080 | 1 | 17024015 | stop gained | C/A;T | snv | 0.700 | 1.000 | 8 | 2006 | 2012 | |||||
|
4 | 0.882 | 0.200 | 11 | 112087868 | stop gained | C/T | snv | 0.700 | 1.000 | 7 | 2001 | 2012 | |||||
|
5 | 0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv | 0.800 | 1.000 | 7 | 2001 | 2007 | |||||
|
4 | 0.882 | 0.080 | 1 | 17024028 | missense variant | C/T | snv | 0.700 | 1.000 | 7 | 2001 | 2007 | |||||
|
4 | 0.882 | 0.200 | 11 | 112087933 | stop gained | G/A | snv | 0.700 | 1.000 | 6 | 2002 | 2010 | |||||
|
5 | 0.882 | 0.080 | 1 | 17028737 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 6 | 2007 | 2016 | |||||
|
4 | 0.925 | 0.080 | 1 | 17044791 | frameshift variant | GAGGT/- | delins | 0.700 | 1.000 | 6 | 2004 | 2014 | |||||
|
9 | 0.807 | 0.240 | 11 | 112088971 | missense variant | G/T | snv | 7.0E-06 | 0.800 | 1.000 | 6 | 2010 | 2015 | ||||
|
5 | 0.882 | 0.080 | 1 | 17024024 | frameshift variant | G/- | delins | 0.700 | 1.000 | 5 | 2005 | 2013 | |||||
|
1 | 1.000 | 0.040 | 2 | 96254107 | missense variant | A/G | snv | 0.800 | 1.000 | 5 | 2010 | 2014 | |||||
|
5 | 0.882 | 0.080 | 1 | 17033059 | splice donor variant | C/T | snv | 0.700 | 1.000 | 5 | 2006 | 2016 | |||||
|
5 | 0.882 | 0.080 | 1 | 17024076 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 5 | 2007 | 2014 | |||||
|
4 | 0.851 | 0.200 | 11 | 112088884 | frameshift variant | TC/- | delins | 0.700 | 1.000 | 4 | 2001 | 2013 | |||||
|
5 | 0.882 | 0.080 | 1 | 17033058 | splice donor variant | A/T | snv | 0.700 | 1.000 | 4 | 2006 | 2012 | |||||
|
1 | 1.000 | 0.040 | 3 | 10142035 | missense variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2013 | 2014 | |||||
|
4 | 0.851 | 0.240 | 11 | 112094832 | stop gained | T/A;C | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2001 | 2012 | ||||
|
2 | 0.925 | 0.080 | 1 | 17033086 | missense variant | A/G | snv | 0.700 | 1.000 | 3 | 2013 | 2014 | |||||
|
8 | 0.776 | 0.160 | 10 | 43113621 | missense variant | T/A;C;G | snv | 0.030 | 1.000 | 3 | 2005 | 2012 | |||||
|
8 | 0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv | 0.020 | 1.000 | 2 | 1999 | 2003 |