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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
32 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.030 | 1.000 | 3 | 2004 | 2008 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.030 | 1.000 | 3 | 2004 | 2013 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 1.000 | 2 | 2004 | 2012 | |||
|
13 | 0.752 | 0.320 | 17 | 34285875 | missense variant | G/A;C;T | snv | 0.16; 1.2E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
1 | 9 | 104784371 | missense variant | C/T | snv | 2.2E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
22 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.080 | 0.875 | 8 | 2005 | 2019 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.060 | 0.833 | 6 | 2005 | 2019 | ||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.030 | 0.667 | 3 | 2005 | 2012 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.020 | 0.500 | 2 | 2005 | 2012 | |||
|
3 | 1.000 | 0.040 | 20 | 59022915 | frameshift variant | AG/- | del | 4.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2007 | ||||
|
45 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 0.020 | 0.500 | 2 | 2005 | 2011 | |||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.020 | 0.500 | 2 | 2005 | 2007 | |||
|
4 | 1.000 | 0.040 | 20 | 59022915 | missense variant | A/C | snv | 7.7E-02 | 5.7E-02 | 0.020 | 1.000 | 2 | 2005 | 2007 | |||
|
26 | 0.683 | 0.480 | 17 | 47283364 | missense variant | T/C | snv | 0.12 | 0.13 | 0.020 | 1.000 | 2 | 2005 | 2016 | |||
|
10 | 0.827 | 0.200 | 5 | 170383792 | missense variant | C/T | snv | 9.9E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
12 | 0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
9 | 0.827 | 0.280 | 1 | 171114102 | missense variant | A/G | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
5 | 0.925 | 0.080 | 3 | 186620775 | missense variant | C/T | snv | 9.0E-03 | 8.1E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
9 | 0.790 | 0.160 | 3 | 186619924 | missense variant | T/C | snv | 0.68 | 0.68 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
12 | 0.763 | 0.400 | 3 | 186620593 | missense variant | G/A;C | snv | 0.67 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1 | 64897943 | intron variant | A/C | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.010 | < 0.001 | 1 | 2005 | 2005 |