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 | 0.925 | 0.120 | 18 | 60184530 | intergenic variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 9 | 94306644 | downstream gene variant | A/G | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
12 | 0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.925 | 0.120 | 16 | 53785981 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 7 | 75546898 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1.000 | 0.080 | 18 | 60205756 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 2 | 650519 | regulatory region variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 2 | 648810 | intergenic variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 2 | 650647 | regulatory region variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 16 | 28844406 | intron variant | A/G | snv | 0.35 | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 18 | 32836937 | intron variant | A/G | snv | 0.88 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
14 | 8 | 9326086 | non coding transcript exon variant | A/G | snv | 0.89 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 647760 | intergenic variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 1.000 | 0.080 | 16 | 53777876 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 11 | 31897652 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 31895723 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.040 | 11 | 31901029 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 5 | 88669203 | non coding transcript exon variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 15 | 54711241 | intergenic variant | A/G | snv | 0.92 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
7 | 0.882 | 0.120 | 16 | 53787703 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 5 | 154163906 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 9 | 126703046 | non coding transcript exon variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2010 | 2010 |