| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.120 | 15 | 90088681 | missense variant | A/C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.240 | 9 | 33442988 | non coding transcript exon variant | A/C | snv | 0.67 | 0.69 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.120 | 12 | 6601978 | missense variant | A/C;G | snv | 2.0E-05; 1.2E-04; 5.2E-03 | 1.7E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 2004 | 2017 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.030 | 0.333 | 3 | 2004 | 2017 | |||||||
|
0.925 | 0.120 | 11 | 111352386 | 3 prime UTR variant | A/G | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 5 | 157494947 | intron variant | A/G | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.120 | 4 | 85995065 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.200 | 19 | 10338716 | synonymous variant | A/G | snv | 0.81 | 0.85 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.120 | 14 | 52274253 | intron variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.240 | 6 | 32607958 | intergenic variant | A/G | snv | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.560 | 3 | 49357413 | missense variant | A/G | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.732 | 0.400 | 6 | 31481199 | non coding transcript exon variant | C/A | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |