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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 19 | 1650135 | intron variant | A/C;G | snv | 6.7E-06; 0.54 |
|
0.810 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.810 | 1.000 | 1 | 2012 | 2014 | |||||||
|
0.882 | 0.120 | 6 | 33716536 | upstream gene variant | A/G;T | snv |
|
0.710 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 |
|
0.030 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 |
|
0.030 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | 0.500 | 2 | 2011 | 2012 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2011 | 2012 | |||||||||
|
0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.020 | 1.000 | 2 | 2005 | 2012 | |||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.020 | 0.500 | 2 | 2013 | 2018 | ||||||||
|
0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.708 | 0.400 | 6 | 38682852 | missense variant | T/A;G | snv | 0.36 |
|
0.020 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 0.500 | 2 | 2011 | 2012 | |||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.240 | 9 | 134340689 | intron variant | A/G | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.400 | 11 | 47259211 | 5 prime UTR variant | G/A | snv | 0.14 | 0.12 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.160 | 3 | 172524100 | upstream gene variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |