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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.708 | 0.440 | 3 | 48466707 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2008 | 2012 | |||||
|
9 | 0.776 | 0.400 | 3 | 48466996 | missense variant | G/A;C | snv | 2.1E-04; 2.7E-04 | 0.030 | 1.000 | 3 | 2008 | 2017 | ||||
|
4 | 0.882 | 0.200 | 1 | 154602065 | missense variant | G/C;T | snv | 2.2E-03; 4.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
5 | 0.827 | 0.240 | 3 | 48467253 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2008 | 2014 | |||||
|
6 | 0.807 | 0.200 | 20 | 10652533 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.120 | 13 | 50945470 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.120 | 20 | 36935048 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.020 | 0.500 | 2 | 2010 | 2011 | |||
|
2 | 0.925 | 0.120 | 20 | 36930760 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.120 | 11 | 65720385 | missense variant | G/A | snv | 9.2E-05 | 1.4E-05 | 0.030 | 1.000 | 3 | 2009 | 2018 | |||
|
3 | 0.882 | 0.120 | 20 | 36930783 | missense variant | A/T | snv | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 7 | 2009 | 2018 | |||
|
2 | 0.925 | 0.120 | 19 | 12810323 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 0.700 | 1.000 | 4 | 2007 | 2013 | |||
|
16 | 0.776 | 0.360 | 13 | 50945445 | missense variant | G/A | snv | 1.4E-03 | 1.4E-03 | 0.700 | 1.000 | 11 | 2006 | 2016 |