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 | 1 | 22907986 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.080 | 1 | 39954534 | upstream gene variant | C/A | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 1 | 22910452 | missense variant | T/A;G | snv | 2.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.851 | 0.080 | 2 | 15942096 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 3 | 18430796 | intron variant | A/G | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
29 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.120 | 4 | 88132618 | missense variant | C/T | snv | 6.4E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 5 | 179705693 | missense variant | G/C | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
5 | 0.882 | 0.080 | 6 | 53041202 | missense variant | T/A;C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.060 | 1.000 | 6 | 2012 | 2019 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.060 | 1.000 | 6 | 2012 | 2019 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.060 | 1.000 | 6 | 2012 | 2019 | |||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.060 | 0.833 | 6 | 2007 | 2019 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
12 | 0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 8 | 143813896 | missense variant | T/C;G | snv | 6.1E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
36 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
19 | 0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.882 | 0.080 | 11 | 102955629 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.080 | 0.875 | 8 | 2008 | 2016 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.120 | 14 | 64352051 | non coding transcript exon variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 |