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 | 0.120 | 9 | 6610328 | stop gained | C/A | snv | 2.0E-05 | 1.2E-04 | 0.700 | 1.000 | 2 | 2015 | 2017 | |||
|
1 | 1.000 | 0.120 | 9 | 6604592 | frameshift variant | T/- | delins | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2002 | 2007 | |||
|
1 | 1.000 | 0.120 | 9 | 6554783 | splice acceptor variant | T/C | snv | 4.1E-06 | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 6554703 | missense variant | C/G;T | snv | 1.7E-04 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 6540132 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 6645476 | stop gained | C/G;T | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 6556267 | frameshift variant | ATGATAGC/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 9 | 6553420 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.710 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.120 | 9 | 6595081 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 6645372 | frameshift variant | T/- | del | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 6550916 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 9 | 6587140 | splice donor variant | C/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.120 | 9 | 6540102 | stop gained | T/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 6534738 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 6536062 | splice donor variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 6550845 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 9 | 6554667 | splice donor variant | A/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 6587268 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 6553508 | stop gained | T/A | snv | 4.0E-06 | 7.6E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 9 | 6550883 | missense variant | G/A | snv | 2.4E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 9 | 6540109 | synonymous variant | G/T | snv | 8.4E-05 | 8.4E-05 | 0.710 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.120 | 9 | 6645472 | frameshift variant | G/- | del | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 9 | 6534707 | splice donor variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.120 | 9 | 6605199 | frameshift variant | G/- | delins | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.120 | 9 | 6602156 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 |