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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.875 | 88 | 2003 | 2019 | |||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.080 | 0.750 | 8 | 2003 | 2019 | |||||||||
|
0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 |
|
0.050 | 1.000 | 5 | 2007 | 2013 | ||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.040 | 1.000 | 4 | 2012 | 2018 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.040 | 1.000 | 4 | 2012 | 2018 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.040 | 1.000 | 4 | 2012 | 2018 | |||||||||
|
0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 |
|
0.040 | 1.000 | 4 | 2014 | 2019 | ||||||||
|
0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 |
|
0.030 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.030 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.030 | 0.667 | 3 | 2013 | 2014 | |||||||||
|
0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2014 | 2019 | |||||||||
|
0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2005 | 2009 | |||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2020 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
0.925 | 0.080 | 2 | 186678500 | 3 prime UTR variant | G/C | snv | 0.22 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 9 | 14190288 | intron variant | A/T | snv | 0.81 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
0.790 | 0.160 | 11 | 65637829 | upstream gene variant | G/A | snv | 0.49 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 106150148 | intron variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 19 | 35648270 | upstream gene variant | G/A | snv | 9.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |