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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.100 | 0.946 | 167 | 1997 | 2019 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.100 | 0.886 | 79 | 1997 | 2019 | |||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.100 | 1.000 | 10 | 2000 | 2015 | |||
|
23 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 0.060 | 0.833 | 6 | 2004 | 2013 | |||||
|
6 | 0.827 | 0.240 | 6 | 26093226 | missense variant | G/A;T | snv | 4.0E-06; 1.6E-05 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
12 | 0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2004 | ||||
|
5 | 0.827 | 0.200 | 1 | 231272345 | missense variant | A/G;T | snv | 0.16 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
9 | 0.790 | 0.240 | 2 | 189565370 | missense variant | C/A | snv | 3.8E-03 | 1.6E-02 | 0.020 | 1.000 | 2 | 2004 | 2007 | |||
|
12 | 0.732 | 0.360 | 6 | 26094205 | stop gained | C/A;T | snv | 1.4E-03 | 0.020 | 1.000 | 2 | 2001 | 2003 | ||||
|
4 | 0.851 | 0.080 | 2 | 189564177 | missense variant | T/A;G | snv | 5.2E-05; 8.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2012 | ||||
|
12 | 0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2003 | ||||
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 2 | 189571799 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.120 | 2 | 238164165 | missense variant | G/T | snv | 4.7E-02 | 1.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
19 | 0.701 | 0.240 | 12 | 52904798 | missense variant | C/A | snv | 4.9E-03 | 5.4E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 2 | 189561913 | missense variant | T/C | snv | 1.2E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
9 | 0.763 | 0.200 | 22 | 37084836 | missense variant | C/T | snv | 6.4E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
9 | 0.763 | 0.200 | 22 | 37086414 | missense variant | T/C | snv | 5.2E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.080 | 1 | 146018395 | stop gained | G/C;T | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.851 | 0.080 | 1 | 146019672 | stop gained | T/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.080 | 12 | 50992810 | missense variant | C/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.827 | 0.160 | 12 | 50992291 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.827 | 0.080 | 12 | 50999214 | missense variant | C/A;T | snv | 6.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | X | 55021095 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
3 | 0.882 | 0.120 | X | 55014830 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |