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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.360 | 6 | 32690302 | TF binding site variant | T/C | snv | 0.15 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 5 | 110810746 | intergenic variant | C/A;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.200 | 4 | 122451978 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
14 | 0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 10 | 6082658 | regulatory region variant | T/C | snv | 4.8E-02 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 16 | 11134855 | intron variant | C/T | snv | 0.18 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 2 | 217812863 | intron variant | G/A | snv | 7.4E-02 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.120 | 2 | 102350089 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 20 | 25226018 | 3 prime UTR variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 12 | 28042192 | intergenic variant | A/G | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 17 | 39816455 | intron variant | G/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.120 | 5 | 111131801 | downstream gene variant | C/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.120 | 15 | 67175947 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.160 | 5 | 110818610 | intergenic variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
28 | 0.662 | 0.480 | 4 | 38798089 | missense variant | T/C | snv | 0.38 | 0.44 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 5 | 116639960 | intergenic variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 8 | 10955964 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 8 | 80379644 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 17 | 39966427 | missense variant | G/A;C;T | snv | 4.1E-04; 4.2E-06; 0.52 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 9 | 6175855 | intergenic variant | A/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 5 | 84611411 | intergenic variant | G/A | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 1 | 107779913 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 16 | 11065028 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 6 | 32658824 | upstream gene variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2014 | 2014 |