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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 17 | 58696702 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 11 | 2010 | 2017 | ||||
|
4 | 0.882 | 0.200 | 17 | 58703201 | stop gained | C/T | snv | 4.0E-05 | 0.700 | 1.000 | 8 | 2012 | 2017 | ||||
|
3 | 0.925 | 17 | 58720817 | splice region variant | G/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 7 | 2010 | 2015 | ||||
|
4 | 0.882 | 0.120 | 17 | 58709857 | splice acceptor variant | A/C;G | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 6 | 2011 | 2016 | |||
|
3 | 0.925 | 17 | 58732548 | inframe deletion | GTA/- | delins | 0.700 | 1.000 | 6 | 2012 | 2017 | ||||||
|
3 | 0.827 | 0.200 | 17 | 58695189 | stop gained | G/A;C | snv | 4.1E-06 | 0.700 | 1.000 | 6 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.200 | 17 | 58695182 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 5 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 | 0.700 | 1.000 | 5 | 2011 | 2016 | ||||
|
2 | 0.882 | 0.120 | 17 | 58709926 | missense variant | G/A | snv | 4.4E-05; 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 4 | 2010 | 2016 | |||
|
3 | 0.925 | 17 | 58724090 | stop gained | C/A;T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2012 | 2016 | ||||
|
5 | 0.851 | 0.200 | 17 | 58695008 | stop gained | -/A | delins | 0.700 | 1.000 | 4 | 2010 | 2016 | |||||
|
2 | 1.000 | 17 | 58724038 | splice acceptor variant | A/C;G | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2013 | 2016 | |||||
|
2 | 1.000 | 17 | 58692789 | splice donor variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
4 | 0.882 | 0.200 | 17 | 58709862 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2014 | 2017 | |||
|
1 | 17 | 58732536 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
3 | 0.925 | 17 | 58724038 | splice acceptor variant | AG/- | del | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
2 | 1.000 | 17 | 58724037 | splice acceptor variant | CAGGG/- | del | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||
|
1 | 17 | 58696785 | frameshift variant | T/- | delins | 4.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||||
|
2 | 1.000 | 17 | 58732523 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2002 | 2017 | |||||
|
1 | 17 | 58724105 | splice region variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||
|
2 | 1.000 | 17 | 58703195 | splice acceptor variant | G/C;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.200 | 17 | 58720795 | frameshift variant | TTGTTCCTGC/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 17 | 58732512 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.882 | 0.200 | 17 | 58692740 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.790 | 0.160 | 17 | 58703325 | stop gained | C/G | snv | 6.4E-05; 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 |