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 | 11 | 17397304 | missense variant | A/C | snv | 3.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.120 | 11 | 17476715 | missense variant | A/T | snv | 5.8E-05 | 3.5E-05 | 0.700 | 1.000 | 6 | 2006 | 2016 | |||
|
2 | 0.925 | 0.120 | 11 | 17463457 | splice donor variant | A/T | snv | 1.5E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 0.925 | 0.120 | 11 | 17395888 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 2 | 1996 | 2011 | |||||
|
2 | 0.925 | 0.120 | 11 | 17402737 | frameshift variant | C/- | delins | 2.1E-05 | 0.700 | 1.000 | 5 | 2006 | 2016 | ||||
|
6 | 0.807 | 0.160 | 11 | 17474955 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 4 | 1998 | 2013 | ||||
|
5 | 0.827 | 0.240 | 20 | 44407388 | missense variant | C/A;T | snv | 4.1E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
2 | 1.000 | 0.120 | 12 | 120989017 | stop gained | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 11 | 17387991 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 11 | 17387224 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 11 | 17395872 | missense variant | C/A;T | snv | 3.9E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 0.925 | 0.120 | 11 | 17408518 | splice acceptor variant | C/G | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 11 | 17397055 | missense variant | C/G;T | snv | 3.3E-04 | 0.700 | 1.000 | 4 | 1995 | 2011 | ||||
|
2 | 0.925 | 0.120 | 11 | 17395610 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.882 | 0.120 | 11 | 17395172 | missense variant | C/T | snv | 2.2E-05 | 7.0E-06 | 0.700 | 1.000 | 7 | 2005 | 2013 | |||
|
2 | 0.925 | 0.120 | 11 | 17461722 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 2004 | 2013 | |||||
|
10 | 0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2000 | 2010 | |||||
|
2 | 0.925 | 0.160 | 12 | 120999522 | missense variant | C/T | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 11 | 17387641 | missense variant | C/T | snv | 2.0E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.120 | 11 | 17402671 | missense variant | G/A | snv | 5.6E-05 | 3.5E-05 | 0.700 | 1.000 | 6 | 2004 | 2015 | |||
|
3 | 0.925 | 0.160 | 20 | 44414506 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 11 | 17387211 | missense variant | G/A;C | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.200 | 11 | 534259 | stop gained | G/A;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.160 | 12 | 25245321 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 7 | 44149798 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |