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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 6 | 7583758 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 5 | 2011 | 2017 | ||||
|
5 | 0.851 | 0.120 | 6 | 7565521 | splice donor variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 1999 | 2014 | ||||
|
3 | 0.882 | 0.160 | 6 | 7579527 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2008 | 2013 | ||||
|
3 | 0.882 | 0.120 | 6 | 7575294 | splice acceptor variant | G/C | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
2 | 0.925 | 0.120 | 6 | 7565357 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
2 | 0.925 | 0.120 | 6 | 7567819 | frameshift variant | G/- | delins | 0.700 | 1.000 | 3 | 2005 | 2014 | |||||
|
2 | 0.925 | 0.120 | 6 | 7568435 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
2 | 0.925 | 0.120 | 6 | 7576457 | splice donor variant | G/T | snv | 0.700 | 1.000 | 3 | 2010 | 2015 | |||||
|
4 | 0.882 | 0.120 | 6 | 7579323 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2005 | 2014 | |||||
|
2 | 0.925 | 0.120 | 6 | 7583727 | frameshift variant | -/A | delins | 0.700 | 1.000 | 2 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.120 | 6 | 7583032 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 2 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.120 | 6 | 7583764 | frameshift variant | TCAG/- | delins | 0.700 | 1.000 | 2 | 2011 | 2017 | |||||
|
2 | 0.925 | 0.120 | 6 | 7584337 | frameshift variant | A/- | del | 0.700 | 1.000 | 2 | 2011 | 2017 | |||||
|
2 | 0.925 | 0.120 | 6 | 7585133 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 2 | 2011 | 2017 | |||||
|
9 | 0.790 | 0.120 | 6 | 7562753 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2006 | 2014 | |||||
|
6 | 0.807 | 0.120 | 6 | 7565507 | frameshift variant | -/G | delins | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
2 | 0.925 | 0.120 | 6 | 7555815 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2014 | |||
|
3 | 0.882 | 0.120 | 6 | 7580585 | stop gained | T/C;G | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 6 | 7580370 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 6 | 7582927 | frameshift variant | GAGA/-;GA | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.120 | 6 | 7567802 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 6 | 7582812 | frameshift variant | ACAGCGCC/GTG | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
4 | 0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 6 | 7582941 | frameshift variant | AGTC/- | delins | 1.2E-05 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.120 | 6 | 7581402 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 |