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 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 0.020 | 1.000 | 2 | 2015 | 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 | |||
|
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 | ||||
|
13 | 0.732 | 0.400 | 5 | 151077924 | intron variant | G/C | snv | 0.44 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
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 | ||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
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 | 10 | 12455748 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.200 | 1 | 17340013 | intron variant | C/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
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 | |||
|
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 | ||||
|
2 | 0.925 | 0.160 | 2 | 40337507 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.240 | 7 | 95425028 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.160 | 4 | 54145602 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.763 | 0.240 | 4 | 105207603 | intron variant | G/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.200 | 7 | 50264865 | upstream gene variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 1 | 17357031 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.160 | 4 | 124718662 | intergenic variant | T/A | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
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 | 11 | 619789 | missense variant | T/G | snv | 0.63 | 0.59 | 0.010 | 1.000 | 1 | 2011 | 2011 |