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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
31 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 1 | 161044580 | intron variant | C/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.763 | 0.280 | 1 | 161039733 | 3 prime UTR variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.200 | 1 | 24120978 | missense variant | G/A;C;T | snv | 9.6E-05; 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 1 | 233280792 | intron variant | T/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 1 | 107816883 | intron variant | T/C | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2013 | 2019 | |||||
|
9 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 2 | 160367217 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 2 | 217429494 | intron variant | C/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.200 | 2 | 102418584 | upstream gene variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 102152913 | intron variant | G/T | snv | 0.84 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
46 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.807 | 0.160 | 2 | 102152842 | intron variant | A/G | snv | 0.36 | 0.010 | < 0.001 | 1 | 2012 | 2012 |