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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 |
|
0.050 | 0.400 | 5 | 2017 | 2019 | ||||||||
|
0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 |
|
0.030 | 1.000 | 3 | 2017 | 2018 | ||||||||
|
0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.807 | 0.160 | 15 | 74745879 | upstream gene variant | G/A | snv | 0.13 |
|
0.020 | 0.500 | 2 | 2013 | 2015 | ||||||||
|
0.851 | 0.040 | 8 | 51974981 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.200 | 11 | 69227200 | intergenic variant | A/G | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.360 | 9 | 94167461 | intron variant | T/C | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.160 | 3 | 36958902 | TF binding site variant | G/A | snv | 9.8E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
5 | 56735995 | regulatory region variant | C/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 0.120 | 16 | 27310774 | upstream gene variant | C/A;G;T | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 6 | 36589803 | upstream gene variant | C/A | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 8 | 16066997 | intergenic variant | A/C | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.080 | 4 | 174540379 | non coding transcript exon variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 15 | 23463380 | intergenic variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.200 | 1 | 159709846 | upstream gene variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.120 | 20 | 32811837 | downstream gene variant | T/C | snv | 0.91 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 5 | 109998341 | regulatory region variant | C/G | snv |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
3 | 184148698 | upstream gene variant | C/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |