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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 0.030 | 1.000 | 3 | 2012 | 2015 | ||||
|
14 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||
|
6 | 0.827 | 0.120 | 16 | 23853269 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
22 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 0.030 | 1.000 | 3 | 2012 | 2014 | ||||
|
4 | 1.000 | 0.040 | 7 | 2750246 | intron variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2011 | 2017 | |||||
|
5 | 0.827 | 0.200 | 6 | 32463370 | intron variant | A/G;T | snv | 0.810 | 1.000 | 3 | 2008 | 2018 | |||||
|
2 | 0.925 | 0.040 | 2 | 102046427 | intron variant | T/G | snv | 0.62 | 0.710 | 1.000 | 2 | 2015 | 2016 | ||||
|
3 | 0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
5 | 0.827 | 0.120 | 9 | 136369439 | intron variant | C/G | snv | 0.38 | 0.710 | 1.000 | 2 | 2008 | 2016 | ||||
|
7 | 0.827 | 0.120 | 11 | 58641214 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
6 | 0.827 | 0.120 | 12 | 68114342 | intron variant | G/A;T | snv | 0.26 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
6 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
8 | 0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
6 | 0.827 | 0.120 | 7 | 50136058 | intron variant | G/A | snv | 0.33 | 0.33 | 0.700 | 1.000 | 2 | 2015 | 2016 | |||
|
2 | 0.925 | 0.040 | 21 | 15444732 | intron variant | A/G | snv | 0.44 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
8 | 0.807 | 0.280 | 4 | 122297158 | intron variant | A/G | snv | 0.10 | 0.020 | 1.000 | 2 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.120 | 2 | 24874775 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
10 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
8 | 0.790 | 0.320 | 19 | 17193427 | intron variant | C/A | snv | 0.44 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
2 | 0.925 | 0.120 | 12 | 68110812 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 2 | 2009 | 2010 | ||||
|
2 | 1.000 | 0.040 | 2 | 198658398 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2015 | |||||
|
8 | 0.790 | 0.200 | 5 | 132442760 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2014 | 2018 |