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 | 0.360 | 12 | 112489084 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
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 | |||||||||
|
0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.080 | 10 | 121488063 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.080 | 10 | 121498520 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.160 | 10 | 121498522 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 10 | 121498525 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.160 | 19 | 1220488 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 19 | 1220630 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
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 | 2008 | 2019 | ||||||||
|
0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.400 | 7 | 140753348 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.280 | 7 | 140753349 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv |
|
0.720 | 1.000 | 1 | 2016 | 2018 | |||||||||
|
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 |