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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.050 | 1.000 | 5 | 2006 | 2015 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.050 | 1.000 | 5 | 2006 | 2015 | |||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.742 | 0.240 | 10 | 87933127 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 3 | 8548583 | stop gained | G/A | snv | 1.9E-04 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.160 | 14 | 61721518 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.160 | 3 | 50341515 | intron variant | A/G | snv | 0.22 | 0.20 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.080 | 1 | 162775837 | missense variant | C/G;T | snv | 1.5E-04 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.683 | 0.480 | 9 | 22003224 | 3 prime UTR variant | C/T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 100299692 | missense variant | C/T | snv | 6.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 3 | 146124229 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.160 | 14 | 36520098 | missense variant | C/G;T | snv | 1.3E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.160 | 17 | 7673752 | missense variant | G/A;C | snv | 1.2E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 |