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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.120 | 11 | 96097550 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.790 | 0.200 | 17 | 43092597 | stop gained | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.070 | 0.857 | 7 | 2010 | 2014 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.060 | 1.000 | 6 | 2009 | 2018 | |||
|
12 | 0.742 | 0.360 | 9 | 34649445 | missense variant | A/G | snv | 9.2E-02 | 7.4E-02 | 0.050 | 0.800 | 5 | 1998 | 2003 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 1.000 | 2 | 2014 | 2016 | |||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 3 | 128081228 | 3 prime UTR variant | A/G | snv | 0.22 | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | 1 | 17590467 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 19 | 54982828 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
7 | 0.827 | 0.160 | 1 | 27884892 | non coding transcript exon variant | A/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.827 | 0.160 | 19 | 19417997 | intron variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 3 | 128084115 | non coding transcript exon variant | A/G | snv | 1.3E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 8 | 128521400 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.724 | 0.360 | 3 | 122274400 | intron variant | A/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 13 | 93224864 | upstream gene variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.742 | 0.440 | 16 | 28502082 | missense variant | A/G | snv | 0.28 | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
11 | 0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 | 0.010 | 1.000 | 1 | 2014 | 2014 |