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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.752 | 0.320 | 11 | 102955810 | upstream gene variant | C/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.080 | 11 | 108227849 | missense variant | C/G;T | snv | 7.1E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
17 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.807 | 0.160 | 8 | 128933908 | intron variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 9 | 134750808 | missense variant | G/A | snv | 3.5E-02 | 3.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 4 | 1805414 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 1 | 209785814 | 3 prime UTR variant | A/G | snv | 7.0E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
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 | |||
|
2 | 0.925 | 0.120 | 1 | 209802041 | splice region variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
10 | 0.763 | 0.200 | 2 | 218882368 | stop gained | C/A | snv | 6.2E-04 | 8.5E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.080 | 2 | 218890118 | missense variant | C/A;T | snv | 4.0E-06; 1.9E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 2 | 218890128 | missense variant | T/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.742 | 0.160 | 2 | 218890244 | missense variant | G/A | snv | 2.1E-03 | 6.9E-04 | 0.020 | 1.000 | 2 | 2016 | 2017 | |||
|
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 | |||
|
1 | 1.000 | 1 | 236482309 | missense variant | C/T | snv | 2.1E-02 | 2.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 1 | 240493497 | intron variant | G/A | snv | 0.21 | 0.17 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
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 | |||
|
2 | 0.925 | 0.120 | 18 | 3457392 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.080 | 14 | 36662954 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 14 | 36663043 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
5 | 0.851 | 0.080 | 14 | 36666548 | missense variant | G/C | snv | 0.36 | 0.33 | 0.020 | 0.500 | 2 | 2010 | 2013 | |||
|
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 | ||||
|
1 | 1.000 | 8 | 38419631 | missense variant | C/T | snv | 2.4E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.240 | 16 | 3930444 | downstream gene variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 |