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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 4 | 120232669 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.080 | 9 | 4860267 | missense variant | C/T | snv | 2.6E-03 | 2.3E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.120 | 15 | 78636604 | intron variant | G/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.120 | 11 | 18040661 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.120 | 6 | 150885942 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
7 | 0.925 | 0.080 | 11 | 13324747 | intron variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 9 | 84674365 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.080 | 2 | 207562074 | intron variant | T/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.080 | 21 | 46602608 | 5 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 0.827 | 0.080 | 12 | 72031544 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.851 | 0.120 | 7 | 87584585 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.851 | 0.120 | 9 | 84667612 | upstream gene variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 1 | 231950407 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.080 | 12 | 71999134 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
32 | 0.645 | 0.560 | 14 | 64257333 | synonymous variant | C/T | snv | 6.7E-02 | 6.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.851 | 0.080 | 3 | 120049399 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.851 | 0.120 | 15 | 60974897 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.925 | 0.080 | 17 | 45807036 | synonymous variant | C/T | snv | 3.1E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.827 | 0.160 | 16 | 71576223 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.882 | 0.080 | X | 151181399 | missense variant | A/G | snv | 0.45 | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.080 | 2 | 25161334 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.851 | 0.080 | 1 | 7809900 | missense variant | A/G | snv | 5.6E-03 | 5.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 |