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 | 0.100 | 1.000 | 11 | 1996 | 2014 | ||||
|
11 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 0.030 | 1.000 | 3 | 1998 | 2015 | |||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.020 | 1.000 | 2 | 2008 | 2015 | |||
|
15 | 0.732 | 0.240 | 20 | 4699848 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.020 | 1.000 | 2 | 2013 | 2016 | |||
|
4 | 0.925 | 0.120 | 20 | 4699785 | missense variant | G/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 20 | 4699935 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.120 | 1 | 33096833 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 19 | 34379521 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.120 | 19 | 34378959 | missense variant | C/A;T | snv | 4.0E-06; 5.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.851 | 0.160 | 3 | 141619799 | downstream gene variant | G/A | snv | 0.38 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.160 | 11 | 117293108 | synonymous variant | C/G | snv | 0.49 | 0.46 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
32 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
6 | 0.827 | 0.160 | 20 | 4699813 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
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 | |||
|
5 | 0.851 | 0.120 | 20 | 4699843 | missense variant | G/A | snv | 6.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
8 | 0.807 | 0.160 | 20 | 4699780 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
11 | 0.827 | 0.240 | 1 | 183220922 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.120 | 7 | 30922174 | frameshift variant | G/- | delins | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |