| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.030 | 1.000 | 3 | 2013 | 2016 | |||||||
|
0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.020 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.020 | 0.500 | 2 | 2011 | 2015 | |||||||
|
0.807 | 0.240 | 8 | 30183156 | missense variant | A/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
11 | 6319476 | missense variant | A/G | snv | 4.2E-06; 0.55 | 0.51 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.752 | 0.120 | 11 | 112087953 | missense variant | A/G | snv | 6.6E-03 | 6.7E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.120 | 15 | 45043305 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.120 | 2 | 25269598 | intron variant | A/G | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 100857102 | missense variant | A/G | snv | 7.2E-05 | 1.2E-04 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.080 | 3 | 9756770 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 18 | 675307 | intron variant | A/G | snv | 4.5E-02 | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |