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 | 0.742 | 0.200 | 6 | 111592059 | missense variant | C/T | snv | 8.6E-02 | 9.7E-02 | 0.710 | 1.000 | 1 | 2010 | 2015 | |||
|
1 | 0.925 | 0.040 | 1 | 152619708 | downstream gene variant | C/A;T | snv | 0.710 | 1.000 | 1 | 2015 | 2018 | |||||
|
4 | 0.827 | 0.240 | 6 | 137878280 | intron variant | G/T | snv | 0.58 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 5 | 96803547 | missense variant | C/A;G;T | snv | 0.64; 8.0E-06; 9.1E-04 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
3 | 0.851 | 0.160 | 5 | 96766240 | intron variant | A/G | snv | 0.61 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
4 | 0.851 | 0.120 | 7 | 3089155 | intron variant | T/C | snv | 0.40 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
14 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.040 | 8 | 107239685 | intergenic variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 4 | 102593288 | non coding transcript exon variant | C/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 1 | 247459055 | upstream gene variant | A/G | snv | 0.81 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 247435930 | intron variant | G/A | snv | 0.59 | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
15 | 0.732 | 0.560 | 9 | 117702866 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 17 | 80205094 | missense variant | C/T | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.851 | 0.160 | 5 | 151098757 | downstream gene variant | G/A | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
66 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 3 | 46371068 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 8 | 6529226 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.882 | 0.040 | 17 | 80198545 | missense variant | C/G;T | snv | 4.0E-06; 2.3E-04 | 3.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
47 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.120 | 5 | 96900192 | splice region variant | A/G | snv | 0.55 | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.120 | 5 | 96793832 | missense variant | T/C | snv | 0.15 | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
25 | 0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
6 | 0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 |