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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.030 | 0.667 | 3 | 2014 | 2019 | |||
|
23 | 0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||
|
11 | 0.752 | 0.320 | 10 | 8062245 | intron variant | C/A;T | snv | 0.030 | 1.000 | 3 | 2013 | 2017 | |||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.030 | 0.667 | 3 | 2005 | 2013 | ||||
|
4 | 0.851 | 0.120 | 10 | 22564019 | intron variant | C/A | snv | 0.55 | 0.030 | 0.667 | 3 | 2013 | 2016 | ||||
|
7 | 0.851 | 0.120 | 5 | 609978 | intron variant | C/T | snv | 0.32 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2009 | 2012 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
3 | 0.882 | 0.120 | 4 | 141732548 | intron variant | A/C | snv | 0.10 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
7 | 0.790 | 0.240 | 10 | 61958720 | intron variant | C/A | snv | 0.49 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 0.500 | 2 | 2004 | 2011 | |||
|
6 | 0.807 | 0.200 | 8 | 63026205 | missense variant | G/A | snv | 8.8E-02 | 7.8E-02 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
25 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2009 | 2010 | |||||
|
23 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2002 | 2013 | |||||
|
23 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
4 | 0.851 | 0.120 | 4 | 141788570 | intergenic variant | T/C | snv | 7.7E-02 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
7 | 0.807 | 0.320 | 6 | 18138997 | missense variant | C/T | snv | 2.8E-02 | 2.6E-02 | 0.020 | 1.000 | 2 | 2009 | 2011 | |||
|
13 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.020 | 1.000 | 2 | 2011 | 2014 | |||
|
41 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 0.020 | 1.000 | 2 | 2011 | 2015 | |||
|
45 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 0.020 | 1.000 | 2 | 2012 | 2016 | |||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.020 | 1.000 | 2 | 2012 | 2013 | |||
|
20 | 0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 | 0.020 | 1.000 | 2 | 2001 | 2006 | ||||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2014 |