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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 7 | 74048163 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.040 | 7 | 74045237 | missense variant | G/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
8 | 0.790 | 0.200 | X | 47587120 | intron variant | T/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 5 | 7868430 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.360 | 16 | 17470454 | missense variant | C/A;G | snv | 2.7E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.160 | 14 | 64406881 | intron variant | A/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2005 | 2010 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 5 | 83498217 | intron variant | G/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.040 | 9 | 121660124 | intron variant | G/A | snv | 0.28 | 0.810 | 1.000 | 1 | 2010 | 2010 | ||||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 3 | 30620836 | intron variant | C/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
29 | 0.653 | 0.480 | 19 | 48234449 | missense variant | A/T | snv | 0.33 | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.827 | 0.120 | 19 | 50820217 | missense variant | C/G | snv | 0.69 | 0.67 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 3 | 30605058 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 20 | 46013279 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 11 | 102790467 | missense variant | T/C | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 68391684 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 1 | 172377256 | intron variant | T/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 11 | 68321363 | intron variant | G/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.040 | 0.750 | 4 | 2008 | 2014 |