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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.810 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 |
|
0.810 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 |
|
0.840 | 1.000 | 2 | 2007 | 2015 | ||||||||
|
0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.695 | 0.360 | 6 | 90267049 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.800 | 1.000 | 2 | 2007 | 2010 | ||||||||
|
0.701 | 0.360 | 17 | 39883866 | intergenic variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv |
|
0.830 | 1.000 | 1 | 2009 | 2015 | |||||||||
|
0.716 | 0.240 | 9 | 4981866 | upstream gene variant | G/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.280 | 3 | 49534707 | 3 prime UTR variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.240 | 2 | 240624322 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.280 | 19 | 48703728 | missense variant | G/A | snv | 0.40 | 0.47 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.716 | 0.240 | 5 | 40487168 | intron variant | C/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.240 | 5 | 56148856 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 10 | 62679011 | downstream gene variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 9 | 129894985 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.724 | 0.240 | 2 | 2944140 | intron variant | G/A | snv | 9.5E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.724 | 0.240 | 16 | 50634166 | 3 prime UTR variant | G/T | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 5 | 132475490 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 13 | 106410694 | intergenic variant | T/C | snv | 7.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |