| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 17 | 80205094 | missense variant | C/T | snv | 0.41 | 0.40 |
|
0.840 | 1.000 | 1 | 2012 | 2016 | |||||||
|
1.000 | 0.040 | 9 | 32523739 | intron variant | T/C | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.807 | 0.120 | 5 | 159402519 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
0.925 | 0.040 | 16 | 30993491 | splice region variant | T/C | snv | 0.39 | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 10 | 79273128 | intron variant | G/A | snv | 0.32 |
|
0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 10 | 79272775 | intron variant | A/G | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 14 | 35212966 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.810 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
0.790 | 0.160 | 5 | 132660753 | 3 prime UTR variant | A/G | snv | 0.81 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.280 | 6 | 111601517 | non coding transcript exon variant | A/G | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 5 | 96824289 | intron variant | A/C | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 1 | 152618666 | downstream gene variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 17 | 22180454 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 12 | 56356420 | intron variant | C/T | snv | 4.9E-02 | 4.5E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 5 | 159290781 | downstream gene variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2009 | 2015 | ||||||||
|
0.925 | 0.040 | 5 | 151087628 | 5 prime UTR variant | G/C;T | snv | 4.8E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 7 | 113078131 | upstream gene variant | C/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 |
|
0.820 | 1.000 | 1 | 2008 | 2014 | |||||||
|
1.000 | 0.040 | 6 | 111352511 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2015 | |||||||||
|
0.776 | 0.240 | 5 | 160452971 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.160 | 6 | 159085568 | intron variant | C/T | snv | 0.75 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.882 | 0.200 | 5 | 159332892 | non coding transcript exon variant | A/G | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
1.000 | 0.040 | 7 | 37346633 | intron variant | C/A | snv | 0.60 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.925 | 0.040 | 5 | 96783569 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.160 | 5 | 96766240 | intron variant | A/G | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2010 | 2015 |