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 | 2 | 98396537 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.120 | 2 | 98396755 | missense variant | G/A | snv | 6.8E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.851 | 0.120 | 2 | 98395999 | missense variant | C/T | snv | 9.5E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.120 | 2 | 98396476 | missense variant | C/T | snv | 9.6E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.807 | 0.160 | 3 | 129528783 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 10 | 93640514 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 2 | 98396788 | missense variant | G/A | snv | 1.4E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.120 | 2 | 98370010 | missense variant | C/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 2 | 98396296 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.120 | 2 | 98395852 | missense variant | G/A | snv | 1.4E-03 | 8.6E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.827 | 0.160 | 12 | 14978047 | stop gained | C/G | snv | 8.4E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.160 | 4 | 15557452 | missense variant | G/A;C;T | snv | 1.7E-04; 4.1E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 10 | 93640953 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 2 | 98396750 | missense variant | T/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 |