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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 10 | 77791882 | 3 prime UTR variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.200 | 1 | 160882036 | missense variant | A/G;T | snv | 0.66 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.925 | 0.040 | 3 | 119781188 | 5 prime UTR variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
15 | 0.732 | 0.360 | 19 | 7747847 | upstream gene variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.040 | 12 | 52898860 | missense variant | G/A | snv | 7.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.882 | 0.120 | 2 | 233282746 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
16 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 0.850 | 1.000 | 7 | 2008 | 2017 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.040 | 0.750 | 4 | 2008 | 2012 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.040 | 0.750 | 4 | 2008 | 2012 | |||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.040 | 1.000 | 4 | 2008 | 2015 | ||||
|
7 | 0.851 | 0.200 | 21 | 39093608 | intergenic variant | G/A | snv | 0.23 | 0.800 | 1.000 | 3 | 2008 | 2017 | ||||
|
6 | 0.925 | 0.040 | 22 | 36862461 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2008 | 2015 | |||||
|
14 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 0.020 | 1.000 | 2 | 2008 | 2012 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.020 | 0.500 | 2 | 2008 | 2017 | |||
|
20 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.810 | 1.000 | 2 | 2008 | 2012 | |||||
|
3 | 0.925 | 0.040 | 16 | 50711664 | synonymous variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
13 | 0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.040 | 16 | 50707883 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
10 | 0.776 | 0.160 | 17 | 4735268 | missense variant | G/A | snv | 0.47 | 0.41 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.925 | 0.120 | 20 | 63712604 | intron variant | T/G | snv | 0.70 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 19 | 18110837 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
3 | 0.925 | 0.040 | 22 | 28795944 | intron variant | A/G | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.040 | 1 | 67182950 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
10 | 0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.807 | 0.120 | 5 | 150860025 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2008 | 2008 |