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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.020 | 1.000 | 2 | 2009 | 2017 | ||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
18 | 0.701 | 0.440 | 11 | 102875061 | upstream gene variant | T/C | snv | 9.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
14 | 0.716 | 0.400 | 11 | 102865911 | missense variant | T/C;G | snv | 7.1E-02; 2.5E-04 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 5 | 1272196 | missense variant | C/T | snv | 9.0E-05 | 1.5E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.080 | 14 | 75963525 | intron variant | A/G | snv | 9.2E-02 | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.200 | 18 | 69863790 | 3 prime UTR variant | C/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.790 | 0.400 | 18 | 69863203 | 3 prime UTR variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.763 | 0.240 | 11 | 1219991 | splice region variant | G/A;T | snv | 0.050 | 1.000 | 5 | 2013 | 2018 | |||||
|
7 | 0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
8 | 0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.040 | 19 | 41323701 | 3 prime UTR variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.040 | 15 | 40425103 | intron variant | G/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
17 | 0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
26 | 0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.080 | 10 | 79557264 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.827 | 0.080 | 10 | 79557363 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 4 | 88890044 | intron variant | G/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.925 | 0.040 | 4 | 88951941 | intron variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 5 | 139480855 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.040 | 5 | 139480849 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |