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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
14 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.790 | 0.120 | 6 | 77463665 | 5 prime UTR variant | A/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.200 | 11 | 113459052 | intron variant | A/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 11 | 113399438 | missense variant | A/C;G | snv | 4.5E-06; 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.827 | 0.200 | 19 | 40850474 | intron variant | A/C;G;T | snv | 0.10; 4.4E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 20 | 32790884 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.030 | 0.667 | 3 | 2011 | 2017 | |||
|
5 | 0.882 | 0.120 | 19 | 40804666 | non coding transcript exon variant | A/G | snv | 0.28 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.080 | 20 | 63350733 | synonymous variant | A/G | snv | 0.92 | 0.81 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 9 | 84849437 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 9 | 99865020 | 3 prime UTR variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 7 | 50482446 | intron variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.925 | 0.120 | 15 | 78603787 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.080 | 8 | 42688874 | intergenic variant | A/G | snv | 0.66 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.080 | 8 | 42691568 | intergenic variant | A/G | snv | 0.64 | 0.710 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 9 | 84711079 | intron variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.827 | 0.120 | 11 | 27705368 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 7 | 50461686 | intron variant | A/G | snv | 0.81 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
8 | 0.776 | 0.200 | 19 | 41009358 | missense variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 89054447 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 10 | 13759269 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 7215003 | intron variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 6 | 154091093 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 113396169 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 |