| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.200 | 4 | 147472512 | intergenic variant | C/A;G;T | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.160 | 6 | 32481634 | intergenic variant | T/C | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 6 | 32576575 | downstream gene variant | T/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 2 | 203829153 | intergenic variant | G/T | snv | 0.55 |
|
0.810 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv |
|
0.810 | 1.000 | 1 | 2010 | 2012 | |||||||||
|
1.000 | 0.120 | 5 | 115513027 | non coding transcript exon variant | A/C | snv | 1.5E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.240 | 11 | 1219991 | splice region variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.776 | 0.360 | 9 | 6210099 | regulatory region variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.160 | 1 | 152577542 | downstream gene variant | T/G | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 2 | 112921279 | downstream gene variant | G/A | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 2 | 112921052 | downstream gene variant | A/G | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 2 | 62294109 | intergenic variant | G/T | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.240 | 10 | 44258419 | downstream gene variant | T/C | snv | 0.24 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 1 | 116721168 | regulatory region variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
0.882 | 0.200 | 6 | 32696222 | intergenic variant | G/C | snv | 0.52 |
|
0.810 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.882 | 0.120 | 2 | 204251279 | regulatory region variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.120 | 5 | 40480085 | intron variant | G/A | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 11 | 128627057 | intron variant | C/T | snv | 0.37 |
|
0.810 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
1.000 | 0.120 | 3 | 74238390 | intergenic variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 2 | 30225478 | intergenic variant | G/T | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | 6 | 32146738 | downstream gene variant | A/T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 6 | 44300181 | 3 prime UTR variant | A/G | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.050 | 1.000 | 5 | 2006 | 2019 | ||||||||
|
0.882 | 0.200 | 13 | 95163161 | missense variant | C/T | snv | 2.3E-02 | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |