| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 21 | 34859485 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.020 | 1.000 | 2 | 2014 | 2014 | |||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | < 0.001 | 2 | 2012 | 2016 | |||||||||
|
1.000 | 0.040 | 5 | 132481024 | intron variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.160 | 7 | 7932654 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 19 | 45099523 | intron variant | T/C | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.120 | 10 | 103093198 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.790 | 0.240 | 10 | 61958720 | intron variant | C/A | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 2 | 200659013 | intron variant | A/G;T | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 5 | 112737780 | intron variant | T/C | snv | 5.4E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.200 | 8 | 63026205 | missense variant | G/A | snv | 8.8E-02 | 7.8E-02 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | 0.040 | 5 | 112707537 | 5 prime UTR variant | C/T | snv | 4.8E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 22 | 39017772 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.200 | 8 | 38415905 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.851 | 0.080 | 9 | 130873027 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 |