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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 12 | 68196168 | intron variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 12 | 68293070 | intron variant | C/T | snv | 4.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.040 | 16 | 72060682 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 6 | 168540944 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.040 | 10 | 79248726 | intron variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 10 | 71376162 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 12 | 53299748 | missense variant | A/G;T | snv | 0.99; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 20 | 33386589 | intron variant | G/A | snv | 0.68 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
18 | 0.695 | 0.400 | 7 | 24283791 | upstream gene variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.807 | 0.280 | 6 | 32857313 | missense variant | G/A;T | snv | 0.24; 4.1E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
16 | 0.732 | 0.240 | 16 | 89919736 | missense variant | C/T | snv | 4.7E-02 | 4.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
15 | 0.716 | 0.400 | 12 | 68157629 | intron variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 9 | 21481484 | stop gained | G/A | snv | 4.5E-02 | 3.7E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
34 | 0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.040 | 6 | 32841299 | intron variant | G/A | snv | 0.43 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.280 | 22 | 23894632 | non coding transcript exon variant | T/C | snv | 0.20 | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
16 | 0.716 | 0.480 | X | 49259429 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |