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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.160 | 10 | 91426505 | intron variant | T/A | snv | 0.21 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 14 | 52933911 | intron variant | T/C | snv | 8.6E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
11 | 0.763 | 0.280 | 16 | 89919532 | missense variant | G/A;C | snv | 7.8E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.120 | 3 | 186727263 | missense variant | T/G | snv | 0.12 | 9.3E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
12 | 0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 7 | 37801932 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 2 | 233159830 | intron variant | C/T | snv | 0.35 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.080 | 1 | 231694549 | missense variant | G/A | snv | 0.30 | 0.26 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 11 | 121577474 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
20 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
14 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 15 | 58545839 | synonymous variant | C/A;G | snv | 1.2E-05; 0.43 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
25 | 0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
13 | 0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
10 | 0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 | 0.020 | 0.500 | 2 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 66990654 | intron variant | A/C | snv | 0.49 | 0.020 | 0.500 | 2 | 2012 | 2014 | ||||
|
2 | 0.925 | 0.080 | 10 | 95595157 | non coding transcript exon variant | C/A;G;T | snv | 0.39 | 0.020 | 0.500 | 2 | 2006 | 2008 | ||||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.020 | 0.500 | 2 | 2012 | 2015 | ||||
|
3 | 0.925 | 0.080 | 19 | 45205630 | intron variant | T/A;C;G | snv | 0.020 | 0.500 | 2 | 2011 | 2012 | |||||
|
2 | 0.925 | 0.080 | 11 | 121500411 | intron variant | G/A | snv | 0.40 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.030 | 0.667 | 3 | 2007 | 2009 | |||
|
3 | 0.882 | 0.120 | 10 | 103458495 | missense variant | AGC/GGT | mnv | 0.030 | 0.667 | 3 | 2009 | 2010 |