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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.70 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.030 | 1.000 | 3 | 2009 | 2019 | |||
|
2 | 0.925 | 0.080 | 2 | 218838575 | upstream gene variant | A/C | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.851 | 0.160 | 16 | 72061751 | intron variant | A/C | snv | 2.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 1 | 22348728 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 4 | 186250267 | missense variant | A/C;G | snv | 1.8E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.800 | 10 | 1999 | 2014 | |||
|
131 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.090 | 0.778 | 9 | 1997 | 2015 | |||
|
22 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.020 | 1.000 | 2 | 2002 | 2009 | |||
|
5 | 0.851 | 0.120 | 22 | 36265860 | missense variant | A/G | snv | 1.6E-02 | 6.6E-02 | 0.020 | 1.000 | 2 | 2010 | 2019 | |||
|
59 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 6 | 149130141 | regulatory region variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.160 | 14 | 59642862 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
38 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
187 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
70 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
57 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
9 | 0.790 | 0.160 | 10 | 88583641 | 5 prime UTR variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 21 | 43419273 | intron variant | A/G | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.080 | 12 | 49950079 | upstream gene variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.851 | 0.200 | 1 | 196724321 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 |