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 | 12 | 71941293 | intron variant | G/T | snv | 0.97 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 1 | 114405659 | missense variant | A/G | snv | 0.88 | 0.92 | 0.800 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.040 | 13 | 109501681 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 16 | 62638708 | intergenic variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 10 | 102431844 | intron variant | T/C | snv | 0.85 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 126633758 | intron variant | A/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 117902581 | intergenic variant | T/C | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 5 | 111484055 | synonymous variant | G/C | snv | 0.75 | 0.83 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 8 | 71649507 | intergenic variant | C/T | snv | 0.83 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 2 | 171787719 | intron variant | T/C | snv | 0.81 | 0.040 | 1.000 | 4 | 2005 | 2010 | ||||
|
1 | 1.000 | 0.040 | 14 | 63864705 | intron variant | T/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 114566293 | downstream gene variant | G/A | snv | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 2 | 171855970 | intron variant | T/C | snv | 0.81 | 0.77 | 0.040 | 1.000 | 4 | 2005 | 2010 | |||
|
4 | 0.882 | 0.120 | 9 | 6977633 | intron variant | G/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 5 | 66244019 | intergenic variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 7 | 155461450 | intron variant | T/C | snv | 0.73 | 0.060 | 1.000 | 6 | 2004 | 2010 | ||||
|
2 | 0.925 | 0.040 | 7 | 155461298 | intron variant | G/A | snv | 0.72 | 0.070 | 1.000 | 7 | 2004 | 2010 | ||||
|
1 | 1.000 | 0.040 | 11 | 124870795 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 11 | 124870514 | intron variant | A/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 5 | 25900989 | intergenic variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 25895895 | intergenic variant | C/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 25899305 | intergenic variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 3 | 8760797 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 124889152 | intron variant | G/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2008 | 2008 |