| 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 | |||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.842 | 19 | 2009 | 2020 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.100 | 0.700 | 10 | 2009 | 2020 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.070 | 0.714 | 7 | 2009 | 2020 | |||||||
|
0.882 | 0.120 | 2 | 31024648 | intron variant | G/T | snv | 0.48 |
|
0.060 | 1.000 | 6 | 2011 | 2020 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.030 | 0.333 | 3 | 2012 | 2020 | |||||||
|
0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 |
|
0.030 | 1.000 | 3 | 2019 | 2020 | ||||||||
|
1.000 | 0.080 | 20 | 56864307 | intergenic variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2018 | 2020 | |||||||||
|
0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 |
|
0.020 | 1.000 | 2 | 2019 | 2020 | |||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.020 | 1.000 | 2 | 2017 | 2020 | ||||||||
|
1.000 | 0.080 | 6 | 31441789 | non coding transcript exon variant | C/G | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 13 | 30459175 | 3 prime UTR variant | -/ATTA | delins | 0.28 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.100 | 0.946 | 37 | 2011 | 2019 | |||||||
|
0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 |
|
0.900 | 1.000 | 20 | 2011 | 2019 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.100 | 0.800 | 20 | 2011 | 2019 | |||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.100 | 0.684 | 19 | 2010 | 2019 | |||||||
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
0.100 | 0.947 | 19 | 2011 | 2019 | ||||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.100 | 0.895 | 19 | 2011 | 2019 | |||||||
|
0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 |
|
0.900 | 0.833 | 12 | 2010 | 2019 | ||||||||
|
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 | ||||||||
|
0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 |
|
0.080 | 0.875 | 8 | 2013 | 2019 | ||||||||
|
0.827 | 0.160 | 22 | 31869917 | intron variant | T/G | snv | 0.37 |
|
0.760 | 1.000 | 7 | 2013 | 2019 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.070 | 1.000 | 7 | 2006 | 2019 | |||||||
|
0.732 | 0.240 | 14 | 69778476 | missense variant | G/A | snv | 6.3E-03 | 2.5E-03 |
|
0.070 | 1.000 | 7 | 2016 | 2019 |