| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 4 | 87661983 | missense variant | A/G;T | snv | 4.0E-06; 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 20 | 6775501 | intron variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 2 | 6383862 | intergenic variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.040 | 0.750 | 4 | 2007 | 2019 | ||||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.040 | 19 | 47004177 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.120 | 16 | 82148499 | 3 prime UTR variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.160 | 15 | 90088605 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.120 | 17 | 7673749 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.040 | 17 | 50184491 | 3 prime UTR variant | A/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.040 | 12 | 68820362 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2007 | 2009 | |||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.100 | 0.818 | 11 | 2012 | 2018 | |||||||
|
0.851 | 0.120 | 16 | 58553833 | synonymous variant | C/T | snv | 0.35 | 0.39 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.120 | 1 | 21564100 | missense variant | T/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.040 | 3 | 179221072 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 |