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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.120 | 6 | 106142488 | intron variant | A/C | snv | 0.72 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
24 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.909 | 44 | 2003 | 2019 | ||||
|
34 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2006 | |||
|
38 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.060 | 1.000 | 6 | 2003 | 2019 | |||||
|
3 | 12 | 96051770 | intergenic variant | C/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2016 | ||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.020 | 1.000 | 2 | 2007 | 2017 | ||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
28 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 1.000 | 0.120 | 21 | 37749345 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |