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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.100 | 0.968 | 31 | 2005 | 2019 | |||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.090 | 1.000 | 9 | 2007 | 2019 | |||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.060 | 0.833 | 6 | 2006 | 2013 | ||||
|
10 | 0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 | 0.060 | 0.833 | 6 | 2001 | 2011 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2001 | 2020 | |||||
|
9 | 0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 | 0.030 | 1.000 | 3 | 2008 | 2015 | ||||
|
6 | 0.807 | 0.120 | 7 | 56106409 | missense variant | G/A | snv | 9.3E-03 | 7.5E-03 | 0.020 | 1.000 | 2 | 2015 | 2016 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 1.000 | 2 | 2015 | 2016 | |||
|
9 | 0.776 | 0.160 | 16 | 46662452 | missense variant | C/T | snv | 0.020 | 0.500 | 2 | 2013 | 2014 | |||||
|
9 | 0.776 | 0.240 | 4 | 89716450 | intron variant | G/A | snv | 0.54 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 9 | 74302924 | regulatory region variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 1 | 54106570 | intron variant | C/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 2 | 189032668 | 3 prime UTR variant | A/C | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.080 | 3 | 184327401 | missense variant | G/A;T | snv | 2.1E-04 | 2.8E-04 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
14 | 0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 54106502 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.827 | 0.120 | 4 | 41260751 | missense variant | C/A;G;T | snv | 4.0E-05; 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 5 | 44515833 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 14 | 54902565 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 18 | 35406636 | upstream gene variant | C/A | snv | 0.71 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 11 | 123060725 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 6 | 161785829 | missense variant | G/A;C;T | snv | 4.0E-06; 1.2E-05; 9.6E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 |