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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 0.700 | 1.000 | 12 | 2006 | 2016 | |||
|
3 | 0.882 | 0.200 | 12 | 88083077 | stop gained | C/A | snv | 3.6E-05 | 6.3E-05 | 0.700 | 1.000 | 5 | 2006 | 2017 | |||
|
8 | 0.776 | 0.280 | 12 | 88125370 | splice acceptor variant | C/T | snv | 1.5E-05 | 0.700 | 1.000 | 5 | 2006 | 2011 | ||||
|
11 | 0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 | 0.700 | 1.000 | 4 | 2006 | 2012 | ||||
|
2 | 0.925 | 0.120 | 6 | 52071009 | missense variant | T/C;G | snv | 1.0E-04 | 0.700 | 1.000 | 4 | 2002 | 2010 | ||||
|
2 | 0.925 | 0.120 | 6 | 52050157 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 2002 | 2010 | |||
|
3 | 0.882 | 0.200 | 12 | 88118744 | splice acceptor variant | C/A;T | snv | 4.2E-06 | 0.700 | 1.000 | 3 | 2006 | 2010 | ||||
|
4 | 0.851 | 0.240 | 12 | 88059897 | splice donor variant | C/T | snv | 1.2E-04 | 6.3E-05 | 0.700 | 1.000 | 3 | 2006 | 2010 | |||
|
3 | 0.882 | 0.200 | 12 | 88083232 | splice acceptor variant | T/C | snv | 7.0E-05 | 4.5E-04 | 0.700 | 1.000 | 3 | 2006 | 2010 | |||
|
1 | 1.000 | 0.080 | 3 | 121790112 | stop gained | G/A | snv | 5.6E-05 | 5.6E-05 | 0.700 | 1.000 | 3 | 2009 | 2015 | |||
|
8 | 0.776 | 0.280 | 12 | 88086038 | splice donor variant | C/T | snv | 5.4E-05 | 9.1E-05 | 0.700 | 1.000 | 3 | 2006 | 2010 | |||
|
8 | 0.776 | 0.280 | 12 | 88120207 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 0.925 | 0.080 | 9 | 100284342 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 2003 | 2011 | ||||
|
1 | 1.000 | 0.080 | 3 | 121772620 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 5887394 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2002 | 2005 | |||||
|
13 | 0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 | 0.710 | 1.000 | 2 | 2011 | 2014 | |||
|
12 | 0.742 | 0.280 | 12 | 88083161 | stop gained | G/A;T | snv | 7.0E-05 | 0.700 | 1.000 | 2 | 2007 | 2017 | ||||
|
9 | 0.763 | 0.280 | 12 | 88086083 | stop gained | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2010 | 2018 | |||
|
8 | 0.776 | 0.280 | 12 | 88125357 | stop gained | G/A | snv | 3.8E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2012 | 2014 | |||
|
3 | 0.882 | 0.200 | 12 | 88114536 | stop gained | G/A | snv | 6.8E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2007 | 2016 | |||
|
4 | 0.851 | 0.080 | X | 153905816 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 9 | 100293045 | splice donor variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.160 | 1 | 5887436 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.882 | 0.160 | 1 | 5904788 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.200 | 2 | 165898769 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 |