| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 150061765 | missense variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
5 | 150073480 | missense variant | C/A | snv |
|
0.700 | 1.000 | 1 | 1990 | 1990 | |||||||||||
|
5 | 150073481 | stop gained | A/G;T | snv |
|
0.700 | 1.000 | 1 | 1990 | 1990 | |||||||||||
|
5 | 150054083 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 1990 | 1990 | |||||||||||
|
0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
5 | 150054082 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 1990 | 1990 | |||||||||||
|
0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 11 | 119278220 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 12 | 11885968 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 12 | 11884541 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.120 | 12 | 11869601 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.040 | 1.000 | 4 | 2009 | 2014 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | 0.500 | 2 | 2012 | 2015 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2012 | 2015 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 0.500 | 2 | 2012 | 2015 | |||||||||
|
0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.160 | 10 | 87933107 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |