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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.030 | 0.667 | 3 | 2013 | 2017 | ||||
|
5 | 0.851 | 0.080 | 3 | 61096480 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 16 | 3656127 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.776 | 0.200 | 21 | 46599326 | 3 prime UTR variant | G/A | snv | 0.16; 2.4E-05 | 0.21 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.851 | 0.280 | 8 | 39908329 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
13 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
4 | 0.882 | 0.120 | 6 | 134293623 | intron variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 6 | 134281316 | intron variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.160 | 11 | 27724217 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.807 | 0.120 | 11 | 113393764 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
23 | 0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.020 | 1.000 | 2 | 2008 | 2013 | |||
|
16 | 0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.882 | 0.120 | 5 | 37824138 | intron variant | A/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
24 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 6 | 132571193 | missense variant | G/A | snv | 6.2E-02 | 7.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.827 | 0.200 | 7 | 143341938 | missense variant | C/T | snv | 4.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
11 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.827 | 0.280 | 7 | 143321720 | missense variant | GG/TC | mnv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.080 | 12 | 2512979 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
11 | 0.776 | 0.280 | 10 | 87933079 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 12 | 71941600 | missense variant | C/A | snv | 2.1E-03 | 7.1E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
22 | 0.689 | 0.360 | 17 | 744946 | missense variant | G/A;C | snv | 0.63 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.120 | 17 | 63477287 | missense variant | G/A | snv | 2.1E-05 | 0.020 | 1.000 | 2 | 2009 | 2013 |