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 | 0.742 | 0.480 | 1 | 161544752 | missense variant | A/C;G;T | snv | 0.33; 4.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 9 | 29632144 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.160 | 1 | 161548543 | missense variant | A/C;T | snv | 4.3E-02; 5.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.160 | 22 | 36312293 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 10 | 35212510 | 3 prime UTR variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.160 | 2 | 160060986 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.160 | 14 | 50767442 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.240 | 1 | 159304102 | missense variant | A/G;T | snv | 6.6E-03 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
13 | 0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 12 | 124851404 | intron variant | C/A | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 16 | 24887651 | intron variant | C/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.160 | 6 | 31636736 | missense variant | C/A;T | snv | 3.4E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
11 | 0.752 | 0.320 | 10 | 8062245 | intron variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.020 | 1.000 | 2 | 2017 | 2017 | |||
|
43 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.200 | 1 | 17340013 | intron variant | C/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.752 | 0.440 | 7 | 74711703 | intron variant | C/T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.200 | 7 | 50264865 | upstream gene variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2017 | 2017 |