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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.020 | 1.000 | 2 | 1997 | 2007 | |||
|
2 | 0.925 | 0.080 | 18 | 60372165 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
21 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.120 | MT | 15497 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
24 | 0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.020 | 0.500 | 2 | 2008 | 2015 | |||
|
2 | 0.925 | 0.080 | 10 | 6234611 | 3 prime UTR variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 0.882 | 0.160 | 4 | 10274843 | intergenic variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 6 | 131807424 | upstream gene variant | C/G;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
18 | 0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
6 | 0.807 | 0.200 | 4 | 37902468 | missense variant | C/A;T | snv | 4.0E-06; 9.7E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.827 | 0.240 | 4 | 9992591 | intron variant | C/T | snv | 0.82 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
11 | 0.752 | 0.320 | 2 | 118078449 | regulatory region variant | C/G | snv | 0.70 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 18 | 60371880 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 6 | 131819872 | non coding transcript exon variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 7 | 106269615 | intron variant | A/T | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.882 | 0.160 | 20 | 37771178 | intron variant | G/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 20 | 37777265 | intron variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 8 | 11792966 | upstream gene variant | T/C | snv | 0.35 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
80 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.020 | 1.000 | 2 | 2010 | 2012 | |||
|
3 | 0.925 | 0.120 | 12 | 109209475 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.851 | 0.200 | 12 | 109205840 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
127 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 |