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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv |
|
0.830 | 1.000 | 1 | 2009 | 2015 | |||||||||
|
0.882 | 0.200 | 2 | 102355405 | intron variant | G/T | snv | 0.77 |
|
0.810 | 1.000 | 1 | 2008 | 2009 | ||||||||
|
0.790 | 0.320 | 6 | 137651931 | intergenic variant | A/G | snv | 0.16 |
|
0.810 | 1.000 | 1 | 2009 | 2010 | ||||||||
|
1.000 | 0.080 | 13 | 50261579 | intron variant | C/T | snv | 0.15 |
|
0.810 | 1.000 | 1 | 2010 | 2014 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.810 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
0.827 | 0.280 | 6 | 127957653 | intergenic variant | A/G;T | snv |
|
0.810 | 1.000 | 1 | 2010 | 2014 | |||||||||
|
1.000 | 0.080 | 2 | 181143073 | intron variant | T/C | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 383546 | regulatory region variant | C/T | snv | 5.4E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.280 | 6 | 408079 | 3 prime UTR variant | C/T | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 200912264 | intron variant | C/T | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.280 | 6 | 90216893 | intron variant | C/A | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 10 | 117854099 | intergenic variant | T/C | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.882 | 0.200 | 3 | 119399949 | intron variant | T/G | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 14 | 68792785 | intron variant | T/C | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 1 | 172711891 | intergenic variant | T/C | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 172895512 | intron variant | T/A | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 7986612 | upstream gene variant | C/A | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 1 | 202500595 | intron variant | T/C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.200 | 16 | 11310036 | intron variant | C/T | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.200 | 2 | 181131318 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 3 | 46240253 | intron variant | C/T | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.200 | 3 | 46193709 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 |