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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.900 | 1.000 | 15 | 2010 | 2018 | |||
|
24 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 0.880 | 1.000 | 10 | 2009 | 2018 | ||||
|
37 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.780 | 0.889 | 9 | 2010 | 2018 | |||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.760 | 1.000 | 8 | 2012 | 2019 | |||
|
18 | 0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv | 0.810 | 1.000 | 7 | 2011 | 2018 | |||||
|
7 | 0.851 | 0.160 | 15 | 78497146 | synonymous variant | C/T | snv | 0.54 | 0.51 | 0.850 | 1.000 | 7 | 2010 | 2018 | |||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.060 | 0.833 | 6 | 2010 | 2018 | |||
|
14 | 0.752 | 0.360 | 10 | 79946568 | missense variant | A/G | snv | 0.47 | 0.42 | 0.740 | 1.000 | 6 | 2011 | 2019 | |||
|
7 | 0.925 | 0.040 | 4 | 88962828 | intron variant | C/T | snv | 0.53 | 0.840 | 1.000 | 6 | 2010 | 2015 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.050 | 1.000 | 5 | 2004 | 2013 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.040 | 1.000 | 4 | 2012 | 2019 | ||||
|
7 | 0.925 | 0.040 | 4 | 144565237 | intron variant | A/G | snv | 0.33 | 0.830 | 1.000 | 4 | 2010 | 2017 | ||||
|
8 | 1.000 | 0.040 | 4 | 144585304 | intron variant | T/C | snv | 0.32 | 0.800 | 1.000 | 4 | 2012 | 2017 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.040 | 1.000 | 4 | 2004 | 2017 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.040 | 1.000 | 4 | 2010 | 2019 | |||
|
5 | 1.000 | 0.040 | 4 | 144559628 | intron variant | A/G | snv | 0.43 | 0.820 | 1.000 | 4 | 2009 | 2013 | ||||
|
11 | 0.827 | 0.120 | 4 | 88948181 | intron variant | T/C | snv | 0.49 | 0.820 | 0.750 | 4 | 2010 | 2015 | ||||
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.040 | 1.000 | 4 | 2010 | 2019 | ||||
|
14 | 0.716 | 0.400 | 11 | 102865911 | missense variant | T/C;G | snv | 7.1E-02; 2.5E-04 | 0.040 | 1.000 | 4 | 2010 | 2018 | ||||
|
7 | 0.882 | 0.120 | 14 | 92649065 | intron variant | G/C;T | snv | 0.700 | 1.000 | 4 | 2014 | 2019 | |||||
|
6 | 0.851 | 0.080 | 19 | 40796801 | 3 prime UTR variant | C/A;T | snv | 0.49 | 0.830 | 1.000 | 4 | 2012 | 2018 | ||||
|
17 | 0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 | 0.030 | 1.000 | 3 | 2008 | 2016 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
9 | 0.827 | 0.160 | 2 | 85666618 | missense variant | G/A;C | snv | 0.50 | 0.030 | 0.667 | 3 | 2005 | 2014 | ||||
|
9 | 0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 3 | 2015 | 2017 |