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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 17 | 17214990 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 2005 | 2015 | |||||
|
1 | 1.000 | 0.080 | 17 | 17213798 | stop gained | G/A;C | snv | 0.700 | 1.000 | 5 | 2006 | 2012 | |||||
|
3 | 0.925 | 0.120 | 17 | 17224041 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2013 | 2016 | |||||
|
6 | 0.827 | 0.240 | 17 | 17215188 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2017 | ||||
|
1 | 1.000 | 0.080 | 17 | 17213816 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 5 | 2005 | 2015 | ||||
|
6 | 0.827 | 0.240 | 17 | 17222500 | splice donor variant | C/A;G | snv | 1.6E-05 | 0.700 | 1.000 | 4 | 2005 | 2012 | ||||
|
3 | 0.925 | 0.080 | 17 | 17215228 | stop gained | G/A;C;T | snv | 6.0E-05 | 0.700 | 1.000 | 3 | 2002 | 2008 | ||||
|
6 | 0.827 | 0.200 | 17 | 17215000 | missense variant | T/C | snv | 1.9E-04 | 1.7E-04 | 0.710 | 1.000 | 3 | 2013 | 2017 | |||
|
2 | 1.000 | 0.080 | 17 | 17215184 | splice donor variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2005 | 2016 | ||||
|
3 | 0.882 | 0.120 | 17 | 17222501 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
2 | 1.000 | 0.080 | 17 | 17222662 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 17 | 17219194 | stop gained | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 17224030 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 17 | 17217128 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 17 | 17215092 | splice acceptor variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 1.000 | 0.080 | 17 | 17226226 | stop gained | G/A;T | snv | 5.6E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.120 | 15 | 39584048 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.120 | 15 | 67184823 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 17 | 17223987 | missense variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.200 | 17 | 17222517 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 17 | 17219017 | splice donor variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 17 | 17227888 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 17228017 | stop gained | G/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 17216380 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 17 | 17226324 | splice acceptor variant | T/C | snv | 4.0E-06 | 0.700 | 0 |