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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 8 | 104014574 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.320 | 6 | 33299895 | 3 prime UTR variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.752 | 0.360 | 6 | 29830972 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.320 | 6 | 32659937 | 3 prime UTR variant | T/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.200 | 1 | 207337251 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
9 | 0.790 | 0.360 | 9 | 117701869 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.807 | 0.240 | 11 | 14900334 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 16 | 50725636 | intron variant | A/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 1 | 64847130 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 127925448 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.160 | 1 | 161671427 | stop gained | C/T | snv | 2.8E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 1 | 236296485 | intergenic variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.790 | 0.320 | 9 | 117702392 | upstream gene variant | G/A | snv | 3.2E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 11 | 27656039 | 3 prime UTR variant | G/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.763 | 0.160 | 11 | 27659197 | 5 prime UTR variant | A/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.240 | 16 | 10912686 | intron variant | A/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 17 | 66435948 | intron variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 1 | 115338434 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.200 | 11 | 102123167 | intron variant | G/C | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 8 | 22164004 | missense variant | G/A | snv | 0.30 | 0.26 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
13 | 0.752 | 0.320 | 17 | 34285875 | missense variant | G/A;C;T | snv | 0.16; 1.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
13 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 |