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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 11 | 101471303 | synonymous variant | G/A;C | snv | 8.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 19 | 35851365 | synonymous variant | G/A | snv | 2.2E-02 | 4.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 22 | 36299896 | intron variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 11 | 101504767 | missense variant | G/A | snv | 6.1E-05; 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 1 | 42740005 | missense variant | C/T | snv | 9.0E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 2 | 191028361 | intron variant | A/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 7 | 131509412 | stop gained | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 19 | 35843517 | synonymous variant | G/A;C | snv | 7.9E-02; 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 17 | 63496920 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 22 | 36299382 | intron variant | C/T | snv | 0.78 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 0.882 | 0.240 | 1 | 54999221 | missense variant | T/C | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 12 | 49950079 | upstream gene variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.080 | 11 | 22859013 | intron variant | C/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.240 | 7 | 131506292 | missense variant | G/A | snv | 2.8E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
4 | 0.851 | 0.200 | X | 108695409 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.120 | X | 50090846 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
4 | 0.851 | 0.080 | 17 | 63477301 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
5 | 0.827 | 0.200 | X | 50085987 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
7 | 0.827 | 0.160 | 22 | 36314138 | splice region variant | T/C | snv | 0.57 | 0.53 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.851 | 0.240 | 4 | 9921380 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.763 | 0.200 | 2 | 227253336 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.807 | 0.240 | 17 | 63496400 | missense variant | T/C;G | snv | 0.52; 1.2E-05 | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.807 | 0.160 | 22 | 36299201 | intron variant | G/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.827 | 0.200 | 5 | 170383792 | missense variant | C/T | snv | 9.9E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 |