| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
0.900 | 0.952 | 21 | 2009 | 2020 | |||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 19 | 2011 | 2020 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 1.000 | 18 | 2011 | 2020 | ||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.900 | 0.889 | 18 | 2009 | 2020 | ||||||||
|
0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv |
|
0.900 | 0.941 | 17 | 2009 | 2020 | |||||||||
|
0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 |
|
0.900 | 0.875 | 16 | 2009 | 2020 | ||||||||
|
0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 |
|
0.900 | 1.000 | 12 | 2009 | 2020 | ||||||||
|
0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv |
|
0.050 | 0.800 | 5 | 2016 | 2020 | |||||||||
|
0.925 | 0.040 | 5 | 160470494 | intron variant | A/G | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.040 | 5 | 160475306 | intron variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.040 | 5 | 160484499 | intron variant | C/A | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.040 | 5 | 160484577 | intron variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.040 | 5 | 160474732 | intron variant | G/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 49 | 2009 | 2019 | ||||||||
|
0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 |
|
0.760 | 1.000 | 9 | 2013 | 2019 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.080 | 1.000 | 8 | 2009 | 2019 | |||||||
|
0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 |
|
0.070 | 1.000 | 7 | 2010 | 2019 | |||||||
|
0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 |
|
0.050 | 1.000 | 5 | 2014 | 2019 | |||||||
|
0.708 | 0.360 | 9 | 22033367 | non coding transcript exon variant | C/T | snv | 0.71 |
|
0.820 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
0.882 | 0.040 | 8 | 129629675 | intron variant | A/G | snv | 0.18 |
|
0.720 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.851 | 0.080 | 9 | 22032153 | intron variant | T/G | snv | 0.28 |
|
0.710 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
0.851 | 0.120 | 8 | 129479506 | intron variant | T/G | snv | 0.17 |
|
0.810 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.925 | 0.080 | 18 | 672792 | 3 prime UTR variant | C/T | snv | 0.40 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.701 | 0.360 | 9 | 22034720 | non coding transcript exon variant | G/A | snv | 0.46 |
|
0.710 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.925 | 0.080 | 18 | 661647 | intron variant | G/A | snv | 0.22 |
|
0.020 | 1.000 | 2 | 2019 | 2019 |