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 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 |
|
0.710 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.070 | 0.714 | 7 | 2011 | 2018 | |||||||
|
0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv |
|
0.050 | 0.400 | 5 | 2008 | 2018 | |||||||||
|
0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 |
|
0.030 | 0.667 | 3 | 2013 | 2018 | ||||||||
|
0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv |
|
0.030 | 0.667 | 3 | 2011 | 2017 | |||||||||
|
0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 |
|
0.020 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.882 | 0.360 | 1 | 113830881 | intron variant | A/C;G | snv | 0.56 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.020 | 1.000 | 2 | 2013 | 2013 | |||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 |
|
0.020 | 1.000 | 2 | 2014 | 2014 | |||||||
|
0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2018 | |||||||||
|
0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.925 | 0.160 | 10 | 8074635 | 3 prime UTR variant | G/A | snv | 0.81 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 6 | 52233314 | downstream gene variant | C/T | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.200 | 6 | 32847198 | missense variant | T/C | snv | 0.17 | 0.18 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 4 | 38774699 | missense variant | C/T | snv | 6.5E-02 | 4.6E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 5 | 111076887 | 3 prime UTR variant | A/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.200 | 1 | 152313454 | missense variant | G/A | snv | 0.27 | 0.19 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 19 | 10255220 | non coding transcript exon variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 6 | 52222236 | intergenic variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.790 | 0.320 | 1 | 173208253 | upstream gene variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.400 | 1 | 173209324 | upstream gene variant | C/T | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |