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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.030 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.030 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.790 | 0.480 | 10 | 52772254 | upstream gene variant | G/C | snv | 0.31 |
|
0.020 | 0.500 | 2 | 2017 | 2019 | ||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.882 | 0.080 | 10 | 17849701 | missense variant | G/A | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.882 | 0.120 | 10 | 52771701 | upstream gene variant | G/A | snv | 0.30 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv |
|
0.020 | 0.500 | 2 | 2014 | 2019 | |||||||||
|
0.851 | 0.280 | 2 | 191153045 | upstream gene variant | T/C | snv | 0.54 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 2 | 230170151 | intron variant | T/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.120 | 19 | 35281996 | intron variant | A/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 230173117 | non coding transcript exon variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 7 | 80629494 | intron variant | A/G | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 8 | 58583857 | 3 prime UTR variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.360 | 9 | 117701869 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.732 | 0.560 | 9 | 117702866 | upstream gene variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.200 | 12 | 8533837 | 3 prime UTR variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 8535216 | intron variant | A/G | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.280 | 10 | 62678726 | downstream gene variant | G/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 12 | 47891631 | intron variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |