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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2004 | 2006 | ||||||||
|
0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 4 | 2010 | 2017 | |||||||
|
0.882 | 0.120 | 11 | 686986 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 2014 | 2017 | ||||||||
|
0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2006 | 2011 | |||||||||
|
0.851 | 0.200 | 7 | 140778007 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 3 | 2006 | 2009 | |||||||||
|
0.882 | 0.200 | 7 | 140778011 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 3 | 2006 | 2009 | |||||||||
|
0.827 | 0.160 | 1 | 42927684 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.882 | 0.040 | 20 | 49374931 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||
|
0.882 | 0.320 | 18 | 55228877 | missense variant | C/A | snv |
|
0.700 | 1.000 | 2 | 2011 | 2014 | |||||||||
|
0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2007 | ||||||||
|
0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 14 | 58444158 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.827 | 0.120 | 1 | 1529299 | missense variant | C/T | snv |
|
0.710 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.200 | X | 65524113 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.160 | 7 | 76063579 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.160 | 19 | 40504064 | stop gained | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.240 | 13 | 23805994 | stop gained | C/A;T | snv | 4.0E-06; 1.3E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 5 | 150256777 | missense variant | C/G;T | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |