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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 0.944 | 36 | 2006 | 2020 | |||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.880 | 1.000 | 11 | 2007 | 2019 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.860 | 0.800 | 10 | 2005 | 2016 | |||
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.860 | 1.000 | 8 | 2006 | 2019 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.850 | 0.875 | 8 | 2008 | 2017 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.850 | 1.000 | 7 | 2006 | 2020 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.850 | 1.000 | 7 | 2006 | 2013 | |||||
|
3 | 0.882 | 0.080 | 1 | 67182913 | missense variant | G/A | snv | 7.3E-03 | 4.5E-03 | 0.850 | 1.000 | 7 | 2011 | 2019 | |||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.800 | 1.000 | 5 | 2006 | 2010 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 1999 | 2016 | |||
|
6 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 0.810 | 1.000 | 3 | 2007 | 2012 | ||||
|
10 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 3 | 2006 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 206772393 | missense variant | C/T | snv | 1.9E-03 | 1.8E-03 | 0.030 | 0.667 | 3 | 2000 | 2005 | |||
|
8 | 0.790 | 0.280 | 1 | 67287825 | intergenic variant | C/T | snv | 0.55 | 0.720 | 1.000 | 3 | 2006 | 2019 | ||||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.030 | 0.667 | 3 | 2009 | 2016 | |||
|
10 | 0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
13 | 0.742 | 0.360 | 1 | 223111186 | missense variant | A/G | snv | 0.39 | 0.34 | 0.030 | 1.000 | 3 | 2013 | 2018 | |||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.800 | 1.000 | 3 | 2008 | 2015 | ||||
|
3 | 0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 3 | 2010 | 2017 | ||||
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||
|
5 | 0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2007 | 2016 | |||||
|
2 | 0.925 | 0.040 | 1 | 247432548 | intron variant | C/T | snv | 0.11 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
10 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.710 | 1.000 | 2 | 2006 | 2013 | ||||
|
6 | 0.882 | 0.120 | 1 | 78157942 | regulatory region variant | C/T | snv | 7.8E-02 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2009 | 2016 |