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 | 6 | 90309585 | intron variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 4 | 122340375 | intron variant | A/C | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 2 | 102470310 | upstream gene variant | A/C | snv | 0.78 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 10 | 79298270 | intron variant | A/C;G | snv | 0.800 | 1.000 | 2 | 2010 | 2011 | |||||
|
12 | 0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
5 | 0.882 | 0.200 | 2 | 181131318 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.882 | 0.200 | 8 | 128252343 | intergenic variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
14 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.827 | 0.440 | 3 | 159947262 | intron variant | A/G | snv | 8.2E-02 | 0.820 | 1.000 | 4 | 2008 | 2020 | ||||
|
7 | 0.827 | 0.200 | 2 | 60959694 | intron variant | A/G | snv | 0.50 | 0.800 | 1.000 | 3 | 2010 | 2012 | ||||
|
7 | 0.827 | 0.200 | 4 | 122194347 | intron variant | A/G | snv | 0.11 | 0.800 | 1.000 | 3 | 2007 | 2014 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.030 | 0.667 | 3 | 2005 | 2019 | |||
|
8 | 0.807 | 0.280 | 4 | 122297158 | intron variant | A/G | snv | 0.10 | 0.710 | 1.000 | 2 | 2007 | 2008 | ||||
|
6 | 0.807 | 0.160 | 4 | 122629959 | intron variant | A/G | snv | 0.10 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.080 | 6 | 159048542 | intron variant | A/G | snv | 0.49 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
10 | 0.790 | 0.320 | 6 | 137651931 | intergenic variant | A/G | snv | 0.16 | 0.810 | 1.000 | 2 | 2009 | 2010 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 1.000 | 2 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 2 | 191048308 | intron variant | A/G | snv | 6.1E-02 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.080 | 7 | 37378851 | intron variant | A/G | snv | 7.9E-02 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 1.000 | 0.080 | 5 | 35877812 | 3 prime UTR variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
13 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
15 | 0.724 | 0.240 | 16 | 28329624 | intergenic variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 12 | 40366829 | non coding transcript exon variant | A/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 |