| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 6 | 108666024 | intron variant | -/GGT | delins | 0.14 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 |
|
0.810 | 1.000 | 3 | 2008 | 2014 | ||||||||
|
0.827 | 0.120 | 17 | 27542007 | intron variant | A/C | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.925 | 0.120 | 19 | 1123379 | intron variant | A/C | snv | 0.25 |
|
0.710 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
0.925 | 0.120 | 5 | 142099500 | regulatory region variant | A/C | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 17 | 42418584 | intron variant | A/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 18 | 11304692 | intergenic variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 6 | 32691666 | regulatory region variant | A/C | snv | 3.4E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 2 | 191066738 | intron variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 8 | 125527723 | intron variant | A/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 4 | 41751113 | intron variant | A/C | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 9 | 114856029 | intron variant | A/C | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 16 | 50707551 | intron variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.120 | 17 | 72646784 | 3 prime UTR variant | A/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 2 | 218286495 | 5 prime UTR variant | A/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 85462322 | upstream gene variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 12 | 40464141 | non coding transcript exon variant | A/C | snv | 0.76 | 0.70 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.160 | 16 | 50732216 | splice donor variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.120 | 11 | 112164016 | 5 prime UTR variant | A/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.320 | 6 | 32408694 | upstream gene variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.040 | 3 | 119818407 | 3 prime UTR variant | A/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 3 | 49421681 | non coding transcript exon variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.120 | 1 | 161504083 | upstream gene variant | A/C | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 15 | 90638257 | non coding transcript exon variant | A/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 16 | 50652646 | downstream gene variant | A/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2007 | 2007 |