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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
15 | 0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
14 | 0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
11 | 0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 0.790 | 0.360 | 6 | 32690302 | TF binding site variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.790 | 0.440 | 6 | 32461866 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.790 | 0.320 | 6 | 32636595 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.807 | 0.240 | 6 | 32461942 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.807 | 0.360 | 6 | 32721752 | downstream gene variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.280 | 6 | 32405921 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 0.827 | 0.280 | 6 | 32444703 | 3 prime UTR variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.200 | 6 | 32373576 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.360 | 6 | 32440750 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.827 | 0.200 | 6 | 32463370 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.827 | 0.160 | 6 | 32690533 | TF binding site variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.120 | 15 | 78944951 | missense variant | C/T | snv | 9.3E-02 | 7.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.851 | 0.240 | 6 | 32627306 | upstream gene variant | G/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.851 | 0.240 | 6 | 32606394 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.851 | 0.280 | 6 | 32459971 | non coding transcript exon variant | C/T | snv | 0.54 | 0.51 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.851 | 0.280 | 6 | 32658495 | upstream gene variant | C/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 10 | 62631615 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.120 | 1 | 147816164 | intergenic variant | G/A | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 |