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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.020 | < 0.001 | 2 | 2007 | 2013 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | < 0.001 | 2 | 2007 | 2013 | |||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
9 | 0.807 | 0.280 | 17 | 39869164 | intron variant | G/A | snv | 0.24 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 1 | 100724755 | missense variant | G/A | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 17 | 39864166 | 5 prime UTR variant | T/C | snv | 0.47 | 0.52 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
12 | 0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.160 | 17 | 39754115 | downstream gene variant | C/T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
13 | 0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.280 | 5 | 132301616 | intron variant | C/T | snv | 6.9E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 14 | 80955786 | missense variant | G/C | snv | 5.2E-03 | 5.0E-03 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.120 | 2 | 1487982 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.160 | 11 | 124660768 | missense variant | T/A;C | snv | 4.0E-06; 3.8E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
8 | 0.851 | 0.200 | 4 | 147519875 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 2 | 1496182 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
6 | 0.882 | 0.200 | 2 | 203868002 | stop gained | G/A | snv | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||||
|
6 | 0.851 | 0.280 | 17 | 39765489 | 3 prime UTR variant | C/T | snv | 0.47 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.240 | 2 | 1404043 | non coding transcript exon variant | C/T | snv | 0.39 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
9 | 0.763 | 0.360 | 6 | 32584333 | missense variant | C/G | snv | 1.3E-05 | 0.020 | 0.500 | 2 | 2003 | 2005 |