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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.882 | 0.200 | 2 | 634905 | TF binding site variant | T/C | snv | 0.85 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 20 | 3669558 | missense variant | G/A | snv | 0.13 | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.851 | 0.120 | 20 | 3671118 | missense variant | C/T | snv | 5.1E-05; 7.6E-02 | 6.7E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.827 | 0.120 | 20 | 3671095 | synonymous variant | C/A;G | snv | 4.7E-06; 0.29 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
16 | 0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 5 | 140634318 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.160 | 5 | 140634792 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.827 | 0.120 | 7 | 106018005 | missense variant | G/A | snv | 0.19 | 0.21 | 0.040 | 1.000 | 4 | 2015 | 2020 | |||
|
2 | 1.000 | 0.080 | 7 | 106021578 | intron variant | C/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 10 | 100218126 | missense variant | C/T | snv | 0.47 | 0.57 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | X | 78327951 | upstream gene variant | C/T | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.160 | 19 | 3586545 | synonymous variant | G/A | snv | 4.0E-06; 0.14 | 0.24 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
14 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 0.030 | 0.667 | 3 | 2009 | 2015 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2008 | 2010 | |||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
14 | 0.742 | 0.240 | 11 | 67585239 | missense variant | T/C;G | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 12 | 121001145 | missense variant | G/A;C | snv | 3.6E-05; 4.0E-06; 8.0E-06 | 5.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1 | 206770767 | 5 prime UTR variant | T/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 |