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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.050 | 0.800 | 5 | 1999 | 2019 | ||||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.030 | 1.000 | 3 | 2002 | 2011 | |||
|
11 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 0.030 | 1.000 | 3 | 2009 | 2015 | |||
|
32 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 1999 | 2011 | |||||
|
3 | 0.882 | 0.160 | 10 | 91426505 | intron variant | T/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.160 | 1 | 47035911 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 20 | 4725072 | missense variant | C/G;T | snv | 4.1E-06; 0.46 | 0.52 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
5 | 0.851 | 0.160 | 3 | 141619799 | downstream gene variant | G/A | snv | 0.38 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.200 | 17 | 80195302 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
4 | 0.851 | 0.160 | 11 | 117293108 | synonymous variant | C/G | snv | 0.49 | 0.46 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.160 | 10 | 91410192 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
15 | 0.732 | 0.240 | 20 | 4699848 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
16 | 0.752 | 0.280 | 20 | 4699758 | missense variant | G/A | snv | 6.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
13 | 0.742 | 0.240 | 20 | 4699915 | missense variant | T/G | snv | 6.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
4 | 0.851 | 0.280 | 19 | 44908681 | missense variant | G/A;C | snv | 2.3E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.827 | 0.240 | 1 | 183220922 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |