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 | 0.080 | 12 | 32796212 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 6 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 12 | 32822594 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 2013 | 2017 | |||||
|
3 | 0.925 | 0.080 | 12 | 32802557 | splice acceptor variant | C/G | snv | 3.2E-05 | 2.8E-05 | 0.700 | 1.000 | 26 | 2004 | 2016 | |||
|
3 | 0.882 | 0.120 | 12 | 32792712 | frameshift variant | T/- | delins | 0.700 | 1.000 | 10 | 2004 | 2014 | |||||
|
2 | 0.925 | 0.080 | 12 | 32850907 | stop gained | G/A | snv | 1.2E-05 | 4.9E-05 | 0.700 | 1.000 | 8 | 2006 | 2014 | |||
|
3 | 0.925 | 0.080 | 12 | 32896581 | frameshift variant | TCTG/- | delins | 2.8E-05 | 0.700 | 1.000 | 8 | 2004 | 2013 | ||||
|
3 | 0.925 | 0.080 | 12 | 32796108 | splice donor variant | C/A;G;T | snv | 2.8E-05 | 0.700 | 1.000 | 7 | 2004 | 2013 | ||||
|
2 | 0.925 | 0.080 | 12 | 32802500 | frameshift variant | GGTGTG/C;G | delins | 0.700 | 1.000 | 7 | 2006 | 2017 | |||||
|
2 | 0.925 | 0.080 | 12 | 32841073 | frameshift variant | C/- | delins | 2.1E-05 | 0.700 | 1.000 | 7 | 2004 | 2014 | ||||
|
5 | 0.851 | 0.120 | 12 | 32879021 | stop gained | G/A | snv | 4.0E-06 | 4.9E-05 | 0.700 | 1.000 | 6 | 2004 | 2014 | |||
|
1 | 1.000 | 0.080 | 12 | 32878375 | missense variant | T/C | snv | 1.2E-03 | 9.8E-04 | 0.700 | 1.000 | 6 | 2004 | 2012 | |||
|
1 | 1.000 | 0.080 | 12 | 32821483 | missense variant | C/A | snv | 0.700 | 1.000 | 6 | 2004 | 2012 | |||||
|
1 | 1.000 | 0.080 | 12 | 32796239 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 2004 | 2012 | |||||
|
2 | 1.000 | 0.080 | 12 | 32896548 | missense variant | G/T | snv | 1.4E-04 | 4.0E-04 | 0.700 | 1.000 | 6 | 2004 | 2012 | |||
|
2 | 0.925 | 0.080 | 12 | 32850873 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 2004 | 2012 | |||||
|
1 | 1.000 | 0.080 | 12 | 32878471 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 2004 | 2012 | |||
|
2 | 0.925 | 0.080 | 12 | 32821439 | missense variant | A/G | snv | 1.6E-05 | 1.1E-04 | 0.700 | 1.000 | 5 | 2006 | 2017 | |||
|
2 | 0.925 | 0.080 | 12 | 32841103 | stop gained | C/T | snv | 1.6E-05 | 0.700 | 1.000 | 5 | 2006 | 2016 | ||||
|
2 | 0.925 | 0.080 | 12 | 32822526 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2016 | |||
|
2 | 0.925 | 0.080 | 12 | 32878545 | splice acceptor variant | T/A | snv | 0.700 | 1.000 | 4 | 2004 | 2017 | |||||
|
1 | 1.000 | 0.080 | 12 | 32822546 | missense variant | T/C | snv | 1.4E-05 | 0.700 | 1.000 | 3 | 2013 | 2017 | ||||
|
3 | 0.925 | 0.120 | 12 | 32841038 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 2004 | 2012 | |||||
|
2 | 0.925 | 0.080 | 12 | 32868965 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2017 | |||
|
1 | 1.000 | 0.080 | 12 | 32792494 | splice acceptor variant | T/G | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2004 | 2013 | ||||
|
2 | 0.925 | 0.080 | 12 | 32841027 | splice donor variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2004 | 2013 |