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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.120 | 6 | 20624151 | intron variant | A/C;G | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 16 | 11655918 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
28 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 0.030 | 0.667 | 3 | 2004 | 2009 | ||||
|
11 | 0.752 | 0.360 | 12 | 6342424 | upstream gene variant | A/C;G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2014 | |||||
|
14 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.120 | 2 | 62333197 | regulatory region variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.080 | 0.875 | 8 | 2005 | 2018 | ||||
|
2 | 0.925 | 0.120 | 16 | 68557327 | intron variant | A/C;T | snv | 0.77; 7.8E-06 | 0.810 | 1.000 | 4 | 2009 | 2017 | ||||
|
21 | 0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 18 | 47856234 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.200 | 1 | 206841127 | intron variant | A/C;T | snv | 0.69 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.100 | 0.833 | 12 | 2007 | 2019 | |||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.050 | 1.000 | 5 | 2009 | 2018 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 1999 | 2016 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.730 | 1.000 | 4 | 2011 | 2016 | |||
|
6 | 0.827 | 0.120 | 1 | 200132792 | intron variant | A/G | snv | 0.84 | 0.800 | 1.000 | 4 | 2012 | 2017 | ||||
|
6 | 0.827 | 0.120 | 2 | 60977721 | intron variant | A/G | snv | 0.37 | 0.800 | 1.000 | 4 | 2011 | 2017 | ||||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.720 | 1.000 | 3 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.040 | 15 | 41271752 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 0.925 | 0.120 | 22 | 49997051 | missense variant | A/G | snv | 0.56 | 0.55 | 0.800 | 1.000 | 3 | 2010 | 2017 | |||
|
22 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 0.030 | 1.000 | 3 | 2012 | 2014 | ||||
|
3 | 0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
15 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2007 |