| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.240 | 1 | 11124516 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.160 | 1 | 11124517 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.710 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 9 | 125149801 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.200 | 8 | 127738390 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.200 | 8 | 127738434 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.200 | 8 | 127738435 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.480 | 7 | 140753333 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 1 | 2003 | 2020 | ||||||||
|
0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv |
|
0.710 | 1.000 | 1 | 2016 | 2017 | |||||||||
|
0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.360 | 7 | 140753393 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.360 | 7 | 140754187 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |