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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
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 | ||||||||
|
0.925 | 0.120 | 5 | 37052453 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.200 | 6 | 43041036 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.200 | 6 | 43050050 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 21 | 37478285 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 21 | 37505442 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 8 | 115604739 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.320 | 20 | 58891811 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 9 | 35801153 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | X | 110264571 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 7 | 66994286 | stop gained | T/A | snv | 1.7E-04 | 1.0E-03 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | X | 120544179 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 3 | 48592915 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
22 | 49883834 | stop gained | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | Y | 641037 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
6 | 99443648 | stop gained | C/A | snv | 1.3E-04 | 1.2E-04 |
|
0.700 | 0 |