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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2010 | |||||
|
7 | 0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
27 | 0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||||
|
12 | 0.790 | 0.160 | 17 | 41612325 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
10 | 0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.010 | < 0.001 | 1 | 2001 | 2001 | ||||
|
2 | 0.925 | 0.080 | 20 | 46725652 | missense variant | G/A | snv | 0.10 | 0.12 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
10 | 0.776 | 0.280 | 10 | 113149972 | intron variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 22 | 23877794 | missense variant | G/A | snv | 1.2E-05 | 1.2E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.120 | 11 | 17453228 | missense variant | T/C | snv | 4.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
9 | 0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 22 | 23877782 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 |