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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 4 | 155208405 | non coding transcript exon variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.790 | 0.480 | 11 | 112165426 | non coding transcript exon variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.320 | 5 | 31409008 | non coding transcript exon variant | T/C | snv | 0.31 | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2007 | 2013 | |||||
|
10 | 0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 | 0.030 | 1.000 | 3 | 2002 | 2009 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2005 | 2005 | ||||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.120 | 3 | 11358545 | missense variant | T/C | snv | 3.2E-02 | 3.9E-02 | 0.020 | 1.000 | 2 | 2010 | 2013 | |||
|
21 | 0.708 | 0.400 | 6 | 38682852 | missense variant | T/A;G | snv | 0.36 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2006 | 2006 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2006 | 2006 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2005 | 2005 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 17 | 42818395 | missense variant | T/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 4 | 3131662 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
6 | 0.827 | 0.120 | 4 | 41260751 | missense variant | C/A;G;T | snv | 4.0E-05; 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.925 | 0.160 | 16 | 86532210 | missense variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 12 | 6934305 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.200 | 15 | 30910758 | missense variant | G/A;C | snv | 6.6E-03; 6.0E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
25 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 |