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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.080 | 1 | 17022648 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 6 | 2002 | 2015 | |||
|
24 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 5 | 2005 | 2014 | |||||
|
5 | 0.882 | 0.080 | 1 | 161323636 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 5 | 2008 | 2014 | |||
|
4 | 0.882 | 0.080 | 1 | 17028680 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2017 | ||||
|
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 | |||||
|
10 | 0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv | 0.730 | 1.000 | 4 | 2006 | 2017 | |||||
|
6 | 0.851 | 0.160 | 1 | 17044818 | missense variant | T/A | snv | 4.4E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 2012 | 2017 | |||
|
4 | 0.925 | 0.080 | 1 | 161328466 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2016 | ||||
|
5 | 0.882 | 0.080 | 1 | 17033058 | splice donor variant | A/T | snv | 0.700 | 1.000 | 4 | 2006 | 2012 | |||||
|
1 | 4 | 54277981 | missense variant | C/A;G | snv | 0.710 | 1.000 | 3 | 2003 | 2006 | |||||||
|
22 | 0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv | 0.030 | 1.000 | 3 | 2004 | 2013 | |||||
|
3 | 0.925 | 0.120 | 4 | 54736498 | missense variant | G/C | snv | 0.700 | 1.000 | 3 | 2007 | 2013 | |||||
|
2 | 4 | 54733175 | missense variant | T/G | snv | 0.700 | 1.000 | 3 | 2007 | 2013 | |||||||
|
12 | 0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2005 | 2014 | |||||
|
4 | 1.000 | 0.080 | 4 | 54727443 | missense variant | G/A | snv | 0.710 | 1.000 | 3 | 2007 | 2013 | |||||
|
1 | 4 | 54727909 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 1995 | 2007 | |||||||
|
4 | 0.925 | 0.080 | 1 | 17024040 | missense variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2002 | 2012 | |||||
|
5 | 0.882 | 0.080 | 1 | 17033060 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 1990 | 2013 | |||
|
5 | 0.851 | 0.080 | 4 | 54733173 | missense variant | A/C;T | snv | 0.700 | 1.000 | 3 | 2007 | 2013 | |||||
|
2 | 1.000 | 0.040 | 4 | 54728096 | missense variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2007 | 2011 | |||||
|
4 | 0.925 | 0.080 | 1 | 17044889 | splice acceptor variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
2 | 4 | 54285925 | missense variant | G/T | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2007 | 2014 | |||||
|
2 | 1.000 | 0.080 | 4 | 54736528 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2005 | 2014 |