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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.875 | 16 | 2000 | 2018 | |||||
|
26 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 0.020 | 1.000 | 2 | 2006 | 2014 | ||||
|
15 | 0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 19 | 52189696 | upstream gene variant | -/G | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 22 | 29948468 | intron variant | -/G | ins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
10 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.080 | 15 | 78668187 | intron variant | A/C | snv | 0.35 | 0.700 | 1.000 | 4 | 2008 | 2012 | ||||
|
16 | 0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 | 0.040 | 1.000 | 4 | 2011 | 2016 | |||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.020 | 1.000 | 2 | 2007 | 2016 | |||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | |||
|
3 | 0.882 | 0.080 | 2 | 112830483 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
12 | 0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.200 | 8 | 6538661 | intron variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.790 | 0.160 | 2 | 38075270 | missense variant | A/C | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.732 | 0.160 | 17 | 7674089 | intron variant | A/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
9 | 0.827 | 0.120 | 15 | 78575140 | intron variant | A/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.080 | X | 153981098 | non coding transcript exon variant | A/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.280 | 6 | 30112216 | intron variant | A/C | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.120 | 11 | 77322663 | 3 prime UTR variant | A/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.080 | 3 | 283727 | intron variant | A/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 6 | 30717643 | upstream gene variant | A/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 |