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 | 0.080 | 10 | 10074911 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 2 | 100824202 | intron variant | T/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
18 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 2 | 100889540 | intron variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 2 | 100895497 | intron variant | T/C | snv | 0.77 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 2 | 100935633 | intron variant | T/C | snv | 0.84 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
23 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 2 | 101008009 | missense variant | T/C | snv | 0.61 | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.120 | 3 | 10141653 | 5 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 12 | 102363335 | non coding transcript exon variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2010 | 2014 | |||||
|
13 | 0.732 | 0.440 | 12 | 102399855 | 3 prime UTR variant | A/G | snv | 2.1E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.752 | 0.440 | 12 | 102481086 | intron variant | A/G | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
5 | 0.851 | 0.120 | 12 | 102497908 | regulatory region variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2006 | 2015 | |||||
|
2 | 0.925 | 0.080 | 12 | 102497974 | regulatory region variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.080 | 11 | 102519261 | downstream gene variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
15 | 0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv | 0.720 | 0.750 | 4 | 2013 | 2018 | |||||
|
2 | 0.925 | 0.080 | 10 | 102654464 | non coding transcript exon variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2013 | 2018 | ||||
|
2 | 0.925 | 0.080 | 19 | 10271151 | 5 prime UTR variant | A/C | snv | 1.6E-02 | 6.7E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 10 | 102821531 | intron variant | A/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.050 | 0.800 | 5 | 2007 | 2015 | ||||
|
11 | 0.742 | 0.160 | 10 | 102837723 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 |