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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 11 | 101034325 | 3 prime UTR variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
|
2 | 0.925 | 0.080 | 11 | 101034566 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
14 | 0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.160 | 2 | 102005914 | intron variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.160 | 2 | 102015190 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.732 | 0.200 | 2 | 102026557 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 9 | 10260263 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.790 | 0.120 | 14 | 104769221 | upstream gene variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 14 | 104775122 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 14 | 104779988 | intron variant | T/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 14 | 104796444 | upstream gene variant | C/T | snv | 0.29 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 14 | 104796575 | upstream gene variant | G/C | snv | 0.86 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 14 | 104797210 | upstream gene variant | C/T | snv | 2.6E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.160 | 19 | 10489766 | synonymous variant | G/C | snv | 0.41 | 0.48 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
28 | 0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 11 | 108225326 | 5 prime UTR variant | A/T | snv | 3.0E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 12 | 113186886 | missense variant | C/G | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 |