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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 | 0.710 | 1.000 | 1 | 2009 | 2010 | ||||
|
2 | 0.882 | 0.080 | X | 67717495 | missense variant | G/A | snv | 7.7E-05 | 1.9E-05 | 0.710 | 1.000 | 1 | 2003 | 2003 | |||
|
5 | 0.851 | 0.160 | 8 | 23668950 | intergenic variant | T/C | snv | 0.50 | 0.710 | 1.000 | 1 | 2009 | 2013 | ||||
|
16 | 0.724 | 0.400 | 5 | 1279913 | intron variant | G/A | snv | 0.18 | 0.710 | 1.000 | 1 | 2011 | 2013 | ||||
|
2 | 0.925 | 0.080 | 2 | 237534583 | missense variant | A/G | snv | 0.28 | 0.34 | 0.710 | 1.000 | 1 | 2011 | 2011 | |||
|
8 | 0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 | 0.710 | 0.500 | 1 | 2008 | 2011 | ||||
|
3 | 0.925 | 0.080 | 19 | 50845834 | intron variant | G/A | snv | 0.82 | 0.710 | 1.000 | 1 | 2008 | 2012 | ||||
|
2 | 0.925 | 0.080 | 15 | 46347610 | intron variant | G/A | snv | 0.49 | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.732 | 0.240 | 8 | 127412547 | intron variant | A/G | snv | 0.63 | 0.710 | 1.000 | 1 | 2008 | 2015 | ||||
|
2 | 0.882 | 0.160 | 11 | 2212344 | intergenic variant | A/C;G | snv | 0.710 | 1.000 | 1 | 2009 | 2012 | |||||
|
2 | 0.925 | 0.080 | 17 | 49359387 | intron variant | G/A;C | snv | 0.710 | 1.000 | 1 | 2011 | 2015 | |||||
|
2 | 0.851 | 0.200 | 2 | 62904596 | intron variant | G/A | snv | 0.13 | 0.710 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 8 | 127527115 | intergenic variant | T/G | snv | 0.91 | 0.710 | 1.000 | 1 | 2007 | 2013 | ||||
|
2 | 0.925 | 0.080 | 10 | 46063201 | upstream gene variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2008 | 2009 | |||||
|
4 | 0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 | 0.710 | 1.000 | 1 | 2008 | 2012 | ||||
|
2 | 0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 | 0.710 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.776 | 0.240 | 19 | 38244973 | intron variant | C/T | snv | 0.40 | 0.710 | 1.000 | 1 | 2009 | 2013 | ||||
|
2 | 0.925 | 0.080 | 9 | 107394019 | intergenic variant | C/T | snv | 0.81 | 0.710 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 12 | 52880120 | regulatory region variant | G/A | snv | 0.12 | 0.710 | 1.000 | 1 | 2008 | 2011 | ||||
|
2 | 0.882 | 0.160 | 6 | 160412632 | intron variant | C/T | snv | 0.21 | 0.710 | 1.000 | 1 | 2008 | 2012 | ||||
|
5 | 0.925 | 0.080 | 13 | 73154002 | intergenic variant | G/T | snv | 0.46 | 0.710 | 1.000 | 1 | 2010 | 2012 | ||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 21 | 38403547 | missense variant | T/C | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
40 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 |