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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.900 | 1.000 | 19 | 2004 | 2019 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.900 | 1.000 | 11 | 2005 | 2019 | |||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.080 | 1.000 | 8 | 1998 | 2019 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.070 | 1.000 | 7 | 2004 | 2015 | |||
|
8 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 0.050 | 1.000 | 5 | 2012 | 2016 | |||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.050 | 1.000 | 5 | 2012 | 2018 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.040 | 1.000 | 4 | 2001 | 2008 | ||||
|
4 | 1.000 | 0.080 | 4 | 99329262 | intron variant | C/A | snv | 0.13 | 0.820 | 1.000 | 4 | 2012 | 2019 | ||||
|
7 | 0.882 | 0.080 | 4 | 99307860 | missense variant | G/A | snv | 1.5E-02 | 5.9E-02 | 0.720 | 1.000 | 4 | 2014 | 2019 | |||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.040 | 1.000 | 4 | 2008 | 2012 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2018 | |||
|
14 | 0.752 | 0.200 | 12 | 111783219 | missense variant | G/A | snv | 6.8E-05 | 7.7E-05 | 0.030 | 1.000 | 3 | 2010 | 2018 | |||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.030 | 1.000 | 3 | 2011 | 2014 | ||||
|
3 | 1.000 | 0.080 | 4 | 4717767 | intron variant | A/G | snv | 0.44 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.080 | 6 | 151356693 | 3 prime UTR variant | T/C | snv | 0.020 | 1.000 | 2 | 2005 | 2006 | |||||
|
1 | 1.000 | 0.080 | 4 | 99124423 | stop gained | T/A;C | snv | 0.78 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2007 | 2014 | ||||
|
5 | 0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.020 | 1.000 | 2 | 2011 | 2013 | |||
|
4 | 0.925 | 0.160 | 4 | 99336998 | intron variant | C/T | snv | 0.38 | 0.710 | 1.000 | 2 | 2013 | 2014 | ||||
|
4 | 0.925 | 0.120 | 4 | 99144358 | intron variant | T/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
4 | 0.851 | 0.120 | 20 | 1994212 | 5 prime UTR variant | T/C | snv | 0.50 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
3 | 1.000 | 0.080 | 4 | 99329813 | intron variant | C/A | snv | 0.30 | 0.710 | 1.000 | 2 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 20 | 1989288 | intron variant | A/G | snv | 0.40 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.080 | 20 | 1991814 | intron variant | T/C | snv | 0.16 | 0.020 | 1.000 | 2 | 2013 | 2015 |