| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.810 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | |||||||
|
0.827 | 0.280 | 4 | 10000237 | intron variant | G/A | snv | 0.72 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 88080741 | downstream gene variant | A/G | snv | 8.2E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.882 | 0.200 | 4 | 88133515 | intron variant | A/G | snv | 8.7E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.882 | 0.160 | 4 | 88169725 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2015 | |||||||||
|
0.925 | 0.120 | 6 | 25830070 | intron variant | A/G | snv | 0.65 |
|
0.800 | 1.000 | 1 | 2010 | 2017 | ||||||||
|
0.925 | 0.120 | 10 | 59707424 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
0.925 | 0.120 | 4 | 9925343 | intron variant | T/G | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 9 | 104561919 | intergenic variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2010 | 2013 | ||||||||
|
0.882 | 0.200 | 4 | 88117930 | intron variant | A/G | snv | 8.9E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 11 | 64566642 | non coding transcript exon variant | C/T | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 4 | 88049223 | intron variant | C/T | snv | 7.8E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 88051854 | intron variant | T/C | snv | 8.7E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2017 | ||||||||
|
0.882 | 0.200 | 4 | 88162514 | intron variant | T/C | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2010 | 2017 | ||||||||
|
0.882 | 0.160 | 4 | 9993558 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2016 | |||||||||
|
0.925 | 0.120 | 4 | 9945032 | intron variant | C/A | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2010 | 2013 | ||||||||
|
0.851 | 0.240 | 4 | 9921380 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2013 | |||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2010 | 2017 | ||||||||
|
0.925 | 0.120 | 11 | 66283241 | splice region variant | G/A;C | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.925 | 0.120 | 7 | 27886026 | intron variant | C/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 7 | 32177281 | intron variant | C/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 11 | 44267885 | intron variant | G/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 12 | 1631005 | 5 prime UTR variant | C/G | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 11 | 65600852 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |