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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 22348728 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.160 | 6 | 149130141 | regulatory region variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.851 | 0.160 | 5 | 173045049 | regulatory region variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 15 | 47852953 | intron variant | C/T | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 4 | 32263375 | intergenic variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 6 | 149115402 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 2 | 218838575 | upstream gene variant | A/C | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.160 | 22 | 35396981 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
13 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 13 | 106451558 | intergenic variant | G/A | snv | 6.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 14 | 53964857 | downstream gene variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
8 | 0.807 | 0.240 | 7 | 87550493 | missense variant | C/A;T | snv | 2.7E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.060 | 0.833 | 6 | 1997 | 2009 | ||||
|
4 | 0.851 | 0.080 | 17 | 63477301 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.080 | 19 | 38645846 | upstream gene variant | G/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.020 | 0.500 | 2 | 2003 | 2003 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 2 | 99844192 | intron variant | C/T | snv | 0.61 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.020 | 1.000 | 2 | 2005 | 2019 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.090 | 0.778 | 9 | 1997 | 2015 | |||
|
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 | |||
|
7 | 0.790 | 0.160 | 2 | 240875159 | missense variant | T/C | snv | 4.4E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.851 | 0.160 | 2 | 240871433 | missense variant | G/A;C | snv | 5.6E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 |