| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.040 | 0.750 | 4 | 2011 | 2015 | |||||||
|
0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv |
|
0.030 | 1.000 | 3 | 2018 | 2019 | |||||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2008 | 2014 | |||||||||
|
0.742 | 0.240 | 2 | 54200842 | intron variant | A/T | snv | 0.56 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.020 | 1.000 | 2 | 2014 | 2014 | |||||||
|
0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 |
|
0.020 | 0.500 | 2 | 2018 | 2019 | ||||||||
|
0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.827 | 0.120 | 2 | 54247527 | intron variant | T/A;G | snv | 0.19 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.752 | 0.280 | 2 | 54283523 | intron variant | T/G | snv | 0.52 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.776 | 0.160 | 19 | 45407414 | 3 prime UTR variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.080 | 7 | 87409385 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 10 | 87885716 | intron variant | A/G | snv | 9.1E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 1 | 17582733 | intron variant | G/A | snv | 1.6E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 8 | 13094897 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.080 | 19 | 35721455 | missense variant | G/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |