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 | 0.120 | 18 | 3457392 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.160 | 20 | 38148005 | missense variant | G/A;C;T | snv | 1.6E-05; 4.1E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.080 | 14 | 36663043 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 4 | 4860050 | missense variant | A/G | snv | 1.4E-03 | 1.7E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 1 | 209790735 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
11 | 0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 8 | 38419631 | missense variant | C/T | snv | 2.4E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 1 | 209785814 | 3 prime UTR variant | A/G | snv | 7.0E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.120 | 1 | 209802041 | splice region variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.080 | 14 | 36666548 | missense variant | G/C | snv | 0.36 | 0.33 | 0.020 | 0.500 | 2 | 2010 | 2013 | |||
|
2 | 0.925 | 0.080 | 4 | 4863211 | 3 prime UTR variant | C/T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
3 | 0.882 | 0.200 | 17 | 28529157 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 14 | 75978424 | intron variant | C/T | snv | 0.80 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.807 | 0.160 | 8 | 128933908 | intron variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 14 | 53952099 | missense variant | C/A;G | snv | 2.8E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
13 | 0.752 | 0.320 | 11 | 102955810 | upstream gene variant | C/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.080 | 7 | 41966080 | missense variant | G/A;C | snv | 0.43; 5.7E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 10 | 52313141 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
19 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
7 | 0.827 | 0.080 | 11 | 108227849 | missense variant | C/G;T | snv | 7.1E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | X | 70035389 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |