| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv |
|
0.840 | 1.000 | 3 | 2011 | 2018 | |||||||||
|
0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv |
|
0.850 | 1.000 | 3 | 2007 | 2018 | |||||||||
|
0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 |
|
0.810 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv |
|
0.820 | 1.000 | 2 | 2011 | 2017 | |||||||||
|
0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 |
|
0.840 | 1.000 | 2 | 2007 | 2013 | ||||||||
|
0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2014 | |||||||||
|
0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv |
|
0.820 | 1.000 | 1 | 2011 | 2013 | |||||||||
|
0.925 | 0.040 | 15 | 44000939 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 1 | 202500595 | intron variant | T/C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.040 | 3 | 60942161 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.160 | 2 | 27412596 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 4 | 147472512 | intergenic variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.040 | 15 | 43464986 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 5 | 117697919 | intergenic variant | TA/-;TATA;TATATA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 2 | 19745816 | intergenic variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.080 | 1 | 154465420 | 3 prime UTR variant | T/A;C | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.280 | 12 | 120997784 | synonymous variant | G/A;T | snv | 6.7E-06; 0.40 |
|
0.820 | 1.000 | 1 | 2009 | 2011 | ||||||||
|
0.925 | 0.040 | 15 | 44116203 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.080 | 14 | 99667605 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv |
|
0.830 | 1.000 | 1 | 2007 | 2012 | |||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.820 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
1.000 | 0.040 | 10 | 30027143 | missense variant | C/A;G | snv | 4.0E-06; 0.38 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.160 | 6 | 31216419 | intergenic variant | A/G;T | snv |
|
0.810 | 1.000 | 1 | 2012 | 2013 | |||||||||
|
0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2016 |