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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.160 | 5 | 308981 | non coding transcript exon variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.160 | 3 | 159992214 | intron variant | A/C;T | snv |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.973 | 37 | 2002 | 2019 | |||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.100 | 0.913 | 23 | 2011 | 2019 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.100 | 0.818 | 11 | 2007 | 2019 | |||||||
|
0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 |
|
0.070 | 1.000 | 7 | 2013 | 2019 | |||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.060 | 0.833 | 6 | 2009 | 2017 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.060 | 0.667 | 6 | 2008 | 2018 | |||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.050 | 1.000 | 5 | 2012 | 2015 | |||||||
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.040 | 0.250 | 4 | 2012 | 2019 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.040 | 1.000 | 4 | 2008 | 2017 | |||||||
|
0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 |
|
0.040 | 1.000 | 4 | 2009 | 2013 | |||||||
|
0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 |
|
0.040 | 0.750 | 4 | 2015 | 2018 | ||||||||
|
0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 |
|
0.040 | 1.000 | 4 | 2017 | 2019 | ||||||||
|
0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 |
|
0.040 | 1.000 | 4 | 2012 | 2017 | ||||||||
|
0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 |
|
0.040 | 0.750 | 4 | 2011 | 2013 | ||||||||
|
0.790 | 0.200 | 4 | 184628935 | 3 prime UTR variant | A/G | snv | 0.27 |
|
0.030 | 0.667 | 3 | 2013 | 2018 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.030 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
0.790 | 0.120 | 14 | 104797271 | upstream gene variant | A/G | snv | 0.85 |
|
0.030 | 1.000 | 3 | 2017 | 2018 | ||||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.030 | 1.000 | 3 | 2008 | 2015 | |||||||
|
0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 |
|
0.030 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.200 | 3 | 169779797 | non coding transcript exon variant | A/G | snv | 0.21 |
|
0.020 | 1.000 | 2 | 2016 | 2018 |