Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 20 | 4787830 | intron variant | -/AGGGACT | ins |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.200 | 17 | 43092277 | frameshift variant | -/T | delins |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 |
|
0.040 | 1.000 | 4 | 2003 | 2015 | |||||||
|
0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 |
|
0.030 | 1.000 | 3 | 2010 | 2011 | ||||||||
|
0.827 | 0.160 | 17 | 43104197 | synonymous variant | A/C | snv | 8.0E-06 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.710 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.120 | 19 | 49042615 | non coding transcript exon variant | A/C;G | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.060 | 1.000 | 6 | 2007 | 2015 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.050 | 1.000 | 5 | 2011 | 2018 | ||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.730 | 1.000 | 3 | 2006 | 2010 | ||||||||
|
0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 2 | 47403192 | start lost | A/C;G;T | snv | 5.1E-05; 1.4E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.200 | 17 | 43115730 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.851 | 0.200 | 3 | 46439310 | missense variant | A/C;G;T | snv | 0.39 | 0.40 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv |
|
0.030 | 1.000 | 3 | 2009 | 2018 | |||||||||
|
0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv |
|
0.720 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.851 | 0.200 | 13 | 51974004 | missense variant | A/C;T | snv | 0.44; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.790 | 0.200 | 17 | 43092597 | stop gained | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.070 | 0.857 | 7 | 2010 | 2014 | |||||||
|
0.742 | 0.360 | 9 | 34649445 | missense variant | A/G | snv | 9.2E-02 | 7.4E-02 |
|
0.050 | 0.800 | 5 | 1998 | 2003 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.030 | 1.000 | 3 | 2010 | 2018 |