| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 7 | 151869086 | intron variant | -/A;AG | ins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2011 | 2011 | |||||||||
|
0.807 | 0.200 | 3 | 37025648 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.200 | 1 | 200038304 | intron variant | A/C;G | snv |
|
0.730 | 1.000 | 3 | 2010 | 2018 | |||||||||
|
0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.120 | 12 | 47875627 | intron variant | A/C;G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.160 | 16 | 23621428 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.790 | 0.160 | 7 | 27202740 | non coding transcript exon variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 9 | 22106272 | intron variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.050 | 1.000 | 5 | 2005 | 2020 | |||||||
|
0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2003 | 2004 | ||||||||
|
0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 |
|
0.020 | 1.000 | 2 | 2006 | 2012 | |||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.020 | 1.000 | 2 | 2008 | 2011 | |||||||
|
0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.280 | 11 | 47255124 | intron variant | A/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 19 | 11017920 | intron variant | A/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 1 | 45568989 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 17 | 67695266 | 3 prime UTR variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 3 | 9756551 | synonymous variant | A/G | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |