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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv |
|
0.800 | 1.000 | 22 | 1994 | 2020 | |||||||||
|
0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 |
|
0.900 | 1.000 | 20 | 2011 | 2019 | ||||||||
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
0.100 | 0.947 | 19 | 2011 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.857 | 14 | 2005 | 2017 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.857 | 14 | 2005 | 2017 | |||||||||
|
0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 |
|
0.900 | 0.833 | 12 | 2010 | 2019 | ||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.100 | 0.750 | 12 | 2011 | 2018 | ||||||||
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.900 | 0.909 | 11 | 2013 | 2019 | ||||||||
|
0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 |
|
0.090 | 0.889 | 9 | 2012 | 2019 | ||||||||
|
0.827 | 0.160 | 22 | 31869917 | intron variant | T/G | snv | 0.37 |
|
0.760 | 1.000 | 7 | 2013 | 2019 | ||||||||
|
0.790 | 0.360 | 6 | 32702478 | downstream gene variant | C/T | snv | 0.34 |
|
0.750 | 1.000 | 6 | 2012 | 2017 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.060 | 1.000 | 6 | 2007 | 2015 | |||||||||
|
0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 |
|
0.060 | 1.000 | 6 | 2011 | 2016 | ||||||||
|
0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv |
|
0.840 | 1.000 | 6 | 2011 | 2017 | |||||||||
|
0.882 | 0.120 | 2 | 31024648 | intron variant | G/T | snv | 0.48 |
|
0.060 | 1.000 | 6 | 2011 | 2020 | ||||||||
|
0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 |
|
0.740 | 0.600 | 5 | 2011 | 2015 | ||||||||
|
0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv |
|
0.740 | 0.800 | 5 | 2012 | 2018 | |||||||||
|
0.807 | 0.200 | 6 | 32698518 | intergenic variant | A/G | snv | 0.15 |
|
0.850 | 0.800 | 5 | 2013 | 2018 | ||||||||
|
0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.740 | 0.800 | 5 | 2012 | 2015 | ||||||||
|
0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 |
|
0.040 | 0.750 | 4 | 2013 | 2019 | ||||||||
|
0.827 | 0.200 | 4 | 166008836 | intron variant | A/T | snv | 0.18 |
|
0.740 | 1.000 | 4 | 2017 | 2019 | ||||||||
|
0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 |
|
0.040 | 0.750 | 4 | 2011 | 2017 | ||||||||
|
0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 |
|
0.030 | 0.667 | 3 | 2012 | 2014 | ||||||||
|
0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv |
|
0.820 | 1.000 | 3 | 2016 | 2018 | |||||||||
|
0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 |
|
0.030 | 0.333 | 3 | 2016 | 2019 |